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Az idiopathiás inflammatoricus myopathiák szisztémás autoimmun megbetegedések, amelyek krónikus izomgyulladás által okozott progresszív izomgyengeséggel, továbbá egyes belső szervek, úgymint a cardiovascularis rendszer, a tüdő és az emésztőrendszer elváltozásaival jellemezhetők.Cél:79 juvenilis és felnőtt korú dermatomyositisben szenvedő beteg adatai alapján a betegség kórlefolyásának és a relapsusok gyakoriságának, továbbá a túlélési valószínűségének bemutatása.Módszer:A szerzők retrospektív módon elemezték 44, a Bohan- és Peter-féle diagnosztikus kritériumrendszer alapján 1976 és 2004 között diagnosztizált juvenilis dermatomyositisben szenvedő gyermek adatait. A túlélési valószínűséget a Kaplan–Meier-módszer segítségével számították ki. A juvenilis dermatomyositisben szenvedő gyermekek adatait 35 felnőtt dermatomyositises beteg adataival hasonlították össze.Eredmények:A betegség kórlefolyása az esetek több mint felében monofázisos volt, míg a betegek egyharmada policiklusos formában szenvedett. A relapsus kockázata a remissziót követő első évben volt a legnagyobb. A juvenilis betegek közül senki sem hunyt el, míg a felnőtt korú betegek között négy betegséghez köthető haláleset is előfordult.Összegzés:Nem találtak összefüggést a relapsusmentes túlélés és a betegség kezdeti terápiája között (glükokortikoid önmagában vagy immunszuppresszív szerrel kiegészítve). A betegek jelentős aránya szenvedett policiklusos vagy krónikus lefolyású betegségben. A relapsusok jelentkezésére egy hosszabb betegségmentes intervallum után is számítani lehet, ezért mindenképpen javasolt a betegek hosszabb távú követése, legkevesebb 2 éven keresztül. Bár igen kedvező eredményeket találtak a betegség túlélésével kapcsolatban, további vizsgálatok szükségesek a betegség funkcionális kimenetelét illetően.

Juvenile and adult dermatomysitis are chronic, immune-mediated inflammatory myopathies characterized by progressive proximal muscle weakness and typical skin symptoms.To compare the symptoms, laboratory and serological findings, treatment and disease course in children and adults suffering from dermatomyositis.In this retrospective study, juvenile and adult dermatomyositis groups were formed. There were 27 patients with juvenile dermatomyositis (mean age, 8.7 years; mean follow-up time: 104.6 months) and 30 adult patients (mean age, 50.3; mean follow-up time: 58.1 months).In patients with juvenile dermatomyositis, treatment with intravenous immunoglobulin and cyclosporine A were more frequent as compared to adult patients. Acute onset of the disease was more frequent in adult patients than in those with juvenile disease. In children symptoms of the disease developed gradually.The findings confirm previously published data showing that there are differences between juvenile and adult patients with dermatomyositis. The authors recommend to follow the patients regularly after reaching remission to avoid bad patient compliance and decrease the number and severity of relapses.

Myositis is an autoimmune disease characterised by proximal muscle weakness.The aim of the authors was to determine the frequency of dermatomyositis-specific autoantibodies (anti-Mi-2, anti-transcriptional intermediary factor 1 gamma, anti-nuclear matrix protein 2, anti-small ubiquitin-like modifier activating enzyme, anti-melanoma differentiation-associated gene) in a Hungarian myositis population and to compare the clinical features with the characteristics of patients without myositis-specific antibodies.Antibodies were detected using immunoblot and immunoprecipitation.Of the 330 patients with myositis, 48 patients showed dermatomyositis-specific antibody positivity. The frequency of antibodies in these patients was lower than those published in literature Retrospective analysis of clinical findings and medical history revealed that patients with dermatomyositis-specific autoantibody had more severe muscle weakness and severe skin lesions at the beginning of the disease.Antibodies seem to be useful markers for distinct clinical subsets, for predicting the prognosis of myositis and the effectiveness of the therapy.

The idiopathic inflammatory myopathies are systemic, chronic autoimmune diseases characterized by proximal symmetrical muscle weakness. One of the main diseases in this group is inclusion body myositis (IBM), an underdiagnosed, progressive muscle disease characteristically affecting the middle-aged and older population. It has a slow, relentlessly progressive course. The precise pathogenesis of the disease remains unknown. In most of the cases it is diagnosed a few years after the appearance of the first symptoms. The muscle biopsy typically shows endomysial inflammation, with invasion of mononuclear cells into the non-necrotic fibers, and also rimmed vacuoles. It appers, that both inflammation and degeneration are present at the onset of the disease. Our aim is to raise awareness about this disease which leads to severe disability, with clinicopathological case presentations and literature overview, emphasizing the importance of collaboration between the clinician and the neuropathologist. No effective therapy is currently available but the rapid diagnosis is essential to slow disease progression. Although this is a relatively rare disease, patients are presenting not only in immunology outpatient clinics; our reports aims to raise awareness and facilitate accurate early diagnosis of IBM.

Summary Background Antibodies directed to the α subunit of the high affinity IgE receptor and the IgE molecule are proposed to be of pathogenetic relevance in a group of patients with chronic urticaria (CU). The diagnosis of autoimmune chronic urticaria (ACU) is difficult; the autologous serum skin test (ASST) seems to be a useful screening test, but reliable, additional confirmatory methods are needed. Objectives To assess the diagnostic value of a modified serum-induced basophil activation test, the CD63 expression assay, in the diagnosis of ACU by comparing the results of the CD63 assay with the results of the histamine release (HR) test, the ASST and serum levels of soluble CD40 ligand (sCD40L). Methods Using basophils from an atopic (DA) and a nonatopic (DNA) donor the activity of sera of 72 patients with CU were measured in HR assay by enzyme-linked immunosorbent assay and in CD63 expression assay by flow cytometry. An ASST was carried out in all patients; in 30 of the 72 patients sCD40L was detected and correlations were derived between the different assays. Sera of 20 normal controls and 26 patients with systemic autoimmune diseases were also tested in the HR assay and in the CD63 expression assay. Results Histamine-releasing activity was detected in the sera of 51% (DA) and 32% (DNA) of CU patients and 57% (DA) and 28% (DNA) of sera upregulated CD63 expression on the surface of basophils from the different donors. There was a significant correlation between the HR and the CD63 assays carried out on both donors, but the ASST showed a strong correlation with the HR assay only for basophils from the DA. The serum level of sCD40L was significantly higher in patients with CU compared with controls, but the difference between the autoimmune and the nonautoimmune groups was not significant. Conclusions The CD63 expression assay seems to be a reliable functional test in the diagnosis of ACU, particularly if highly sensitive donor basophils are used, but the determination of the sCD40L serum level was not sufficient to differentiate between the autoimmune and the nonautoimmune patient groups.

Objective: To investigate the intracellular and soluble cytokine levels and T cell subsets in peripheral blood of patients with active and inactive polymyositis and dermatomyositis. Methods: The frequencies of T and B lymphocytes, T helper (Th), and T cytotoxic (Tc) cells and of interferon γ (IFNγ), interleukin (IL)4, and IL10 expression of CD4+ or CD8+ cells were determined by flow cytometry. The concentrations of soluble cytokines were measured with commercial enzyme linked immunosorbent assays. Results: In active dermatomyositis there was a decreased percentage of T (CD3+) lymphocytes and Tc (CD8+) lymphocytes, decreased IFNγ expression of CD4+ and CD8+ cells, but an increase in B and IL4 producing CD4+ lymphocyte frequencies. These prominent changes disappeared in the inactive stage of the disease. In polymyositis no significant change in these lymphocyte subsets or in intracellular cytokine expression could be detected in either the active or the inactive form. The frequency of IL4+/IFNγ+ Th cells was calculated and a significantly increased Th2/Th1 frequency was found in active dermatomyositis, and a decreased frequency in inactive dermatomyositis, compared with the control population. Conclusions: There appears to be a difference between polymyositis and dermatomyositis in the level of peripheral blood lymphocytes and their intracellular cytokine content. These findings provide further evidence for a difference in the pathogenesis of polymyositis and dermatomyositis.

The TT virus, a recently identified single-stranded DNA virus with unknown pathogenicity, has been shown to commonly infect humans. Viruses have been considered to contribute to disease pathogenesis in autoimmune disorders including idiopathic inflammatory myopathies (IIMs) and rheumatoid arthritis (RA). We assessed the prevalence of TTV infection in IIM compared with that in patients with RA and healthy blood donors. Detection of TTV was conducted by nested PCR and real-time PCR in the sera of 94 patients with IIM, 95 RA patients. and 95 age- and sex-matched healthy blood donors. Identity of the PCR products was confirmed by sequencing. TTV DNA was detected in 61 of 94 (64.9%) patients with IIM, in 64 of 95 (67.4%) patients with RA, and in 62 of 95 (65.3%; P > 0.05) healthy individuals. Age, sex, activity, or duration of disease had no influence on TTV positivity in either group. However, patients with severe IIM (n = 36) had a significantly higher rate of TTV infection (31/36, 86.1%) than patients with mild disease (30/58, 51.7%, P < 0.05, chi(2) = 10.0). Disease was considered severe in IIM when immunosuppressive treatment was necessary because of continuous high activity and/or serious inner-organ involvement despite corticosteroid treatment. In conclusion, although we found the detection rate of TTV similar in patients with idiopathic inflammatory myopathies and rheumatoid arthritis and comparable to that in healthy controls, our data suggest that infection with TT virus may result in a more severe disease in patients with idiopathic inflammatory myopathies.

Background: The polymyositis (PM) and dermatomyositis (DM) complex encompasses a heterogeneous group of acquired autoimmune skeletal muscle diseases called idiopathic inflammatory myopathies (IIM). Despite their histological and immunopathological differences, the end result of the affected muscles in all of these entities is the triad of chronic inflammation, fibrosis and the loss of muscle fibres. The aim of this study was to perform a complete analysis of the orofacial abnormalities in 34 patients with PM and DM. Methods: Evaluation of subjective oral symptoms, measurement of whole resting saliva flow rate (WS) with the ‘spitting method’, a visual investigation of the oral soft tissue alterations, light- and electron microscopic analysis of the symptoms of capillary abnormalities or signs of focal infiltration in labial biopsy specimens were carried out. The number of decayed, missing and filled teeth (DMF-T) according to the WHO recommendations (1997), the periodontal probing depth (PPD), the plaque index (PI; Silness–Loe) and the gingival index (GI; Loe–Silness) were determined. For comparison with healthy controls the masticatory force (MF) and the force of the upper extremities’ flexors were measured with a specially developed device. The spss version 11.0 for Windows software program, two-tailed Student's t-test and Mann–Whitney test were used to statistically analyse all data. Values were considered to be significant if P level was ≤0.05. Results: Nine patients complained of subjective xerostomia, 11 showed the signs of salivary hypofunction (WS ≤ 0.1 ml/min). The most prominent symptom of the oral mucosa and perioral tissues was the presence of telangiectasia, detected in seven cases. Fibrosis of the minor salivary glands was found in 12 patients, interstitial–perivascular infiltration was detected in eight cases, periductal infiltration in one case. The findings on dental and periodontal conditions indicate, that the patients with IIM diseases had significantly higher DMF-T scores (24.06 ± 7.04 vs. 19.54 ± 8.93, respectively; P = 0.002), they had less remaining teeth in average (15 vs. 20; P = 0.002), compared with the control group. Their oral hygiene was significantly worse (PI was 1.46 ± 0.75 and 0.73 ± 0.54, P = 0.001). GI was significantly higher in the patients (1.27 ± 0.60 and 0.66 ± 0.56, respectively, P = 0.0003), although we could not demonstrate any difference in the severity of the periodontal destruction between patients and controls. Masticatory force was significantly weaker in the first molar region on both sides in the patient group (309 ± 213 N and 113 ± 146 N, P = 0.0016 for the right side; 315 ± 239 N and 123 ± 76 N, P = 0.009 for the left side), but only the left hands showed to be weaker in the patient group (77 ± 27 N and 59 ± 20 N, P = 0.04). Conclusion: In conclusion, the present study showed that, patients with IIM diseases have hyposalivation and mucosal alterations, mainly in the form of telangiectasia. They have increased prevalence of dental caries, which may be secondary to the hyposalivation. The masticatory and the upper extremity flexor forces indicate that the weakness of the masticatory muscles can manifest earlier than that of the arms.

This report concerns a 56-year-old-woman presenting PM-SCL autoantibody positive scleroderma with dermatomyositis (scleromyositis) and concomitant interstitial lung fibrosis. The recently observed overlapping syndrome is characterized by the presence of specific autoantibodies, HLA-type association and benign course. A new skin symptom ("mechanic's hands") predicts the disease, in particular the interstitial lung pathology, which is its most relevant internal manifestation.

The idiopathic inflammatory myopathies are characterized by chronic muscle inflammation and involvement of internal organs, which contribute considerably to the morbidity and mortality of the disease. We conducted the current study to determine the survival data for patients with idiopathic inflammatory myopathies according to the presence of extramuscular clinical manifestations. We also determined the cumulative survival probability and the long-term prognosis and analyzed the causes of death at a single clinical immunology center.A survival analysis was performed using data for 162 patients diagnosed between 1976 and 1997 according to Bohan and Peter's criteria. Patients were followed up for a minimum of 5 years (median, 101.5 mo) or to date of death. Cumulative survival probability was calculated by the Kaplan-Meier method. The influence of extraskeletal and extramuscular involvement was analyzed as prognostic factors for death by Cox proportional hazards survival model. Eighteen disease-specific deaths occurred; pulmonary and cardiac complications were the most frequent causes of death. Global survival rates were 95%, 92%, and 89% for 1, 5, and 10 years, respectively. Analysis for clinicopathologic subgroups revealed that cancer-associated myositis had the worst prognosis, while juvenile and overlap myositis had the best prognosis. Five- and 10-year survival rates were 94.2% and 89.4% for patients with primary polymyositis and 90.1% and 86.4% for primary dermatomyositis patients, respectively. In the whole group of patients with idiopathic inflammatory myopathy, cardiac (p < 0.01) and respiratory muscle involvement (p = 0.045) were significant prognostic factors for death. In the group of patients with primary polymyositis/dermatomyositis, cardiac involvement was the main prognostic factor for death (p < 0.01). Myositis patients described in this study have higher survival rates than reported previously worldwide. We examine the reasons for the differences between the data in the current study and the available survival data in the relevant literature.

Inclusion body myositis is a rare, late-onset myopathy. Both inflammatory and myodegenerative features play an important role in their pathogenesis. Overlapping clinicopathological entities are the familial inclusion body myopathies with or without dementia. These myopathies share several clinical and pathological features with the sporadic inflammatory disease. Therefore, better understanding of the genetic basis and pathomechanism of these rare familial cases may advance our knowledge and enable more effective treatment options in sporadic IBM, which is currently considered a relentlessly progressive incurable disease.

The High-Mobility Group Box 1 protein (HMGB1) is a known nuclear protein which may be released from the nucleus into the cytoplasm and the extracellular space. It is believed that the mobilized HMGB1 plays role in the autoimmune processes as an alarmin, stimulating the immune response. In addition, muscle regeneration and differentiation may also be altered in the inflammatory surroundings. Biopsy specimens derived from patients with idiopathic inflammatory myopathies (IIM) such as polymyositis or dermatomyositis were compared to muscle samples from patients undergoing surgical interventions for coxarthrosis. The biopsy and surgery specimens were used for Western blot analysis, for immunohistochemical detection of HMGB1 in histological preparations and for cell culturing to examine cell proliferation and differentiation. Our data show lower HMGB1 expression, impaired proliferation and slightly altered fusion capacity in the primary cell cultures started from IIM specimens than in cultures of coxarthrotic muscles. The ratio of regenerating muscle fibres with centralised nuclei (myotubes) is lower in the IIM samples than in the coxarthrotic ones but corticosteroid treatment shifts the ratio towards the coxarthrotic value. Our data suggest that the impaired regeneration capacity should also be considered to be behind the muscle weakness in IIM patients. The role of HMGB1 as a pathogenic signal requires further investigation.

Introduction: Myositis is an autoimmune disease characterised by proximal muscle weakness. Aim: The aim of the authors was to determine the frequency of dermatomyositis-specific autoantibodies (anti-Mi-2, anti-transcriptional intermediary factor 1 gamma, anti-nuclear matrix protein 2, anti-small ubiquitin-like modifier activating enzyme, anti-melanoma differentiation-associated gene) in a Hungarian myositis population and to compare the clinical features with the characteristics of patients without myositis-specific antibodies. Method: Antibodies were detected using immunoblot and immunoprecipitation. Results: Of the 330 patients with nyositis, 48 patients showed dermatomyositis-specific antibody positivity. The frequency of antibodies in these patients was lower than those published in literature Retrospective analysis of clinical findings and medical history revealed that patients with dermatomyositis-specific autoantibody had more severe muscle weakness and severe skin lesions at the beginning of the disease. Conclusions: Antibodies seem to be useful markers for distinct clinical subsets, for predicting the prognosis of myositis and the effectiveness of the therapy. Orv. Hetil., 2015, 156(36), 1451–1459.

Idiopathic inflammatory myopathies are autoimmune diseases characterized by symmetrical proximal muscle weakness. Our aim was to identify a correlation between VDR polymorphisms or haplotypes and myositis. We studiedVDR-BsmI,VDR-ApaI,VDR-TaqI, andVDR-FokIpolymorphisms and haplotypes in 89 Hungarian poly-/dermatomyositis patients (69 females) and 93 controls (52 females). We did not obtain any significant differences forVDR-FokI,BsmI,ApaI, andTaqIgenotypes and allele frequencies between patients with myositis and healthy individuals. There was no association of VDR polymorphisms with clinical manifestations and laboratory profiles in myositis patients. Men with myositis had a significantly different distribution ofBB,Bb, andbbgenotypes than female patients, control male individuals, and the entire control group. Distribution ofTT,Tt, andttgenotypes was significantly different in males than in females in patient group. According to four-marker haplotype prevalence, frequencies of sixteen possible haplotypes showed significant differences between patient and control groups. The three most frequent haplotypes in patients were thefbAt,FBaT, andfbAT. Our findings may reveal that there is a significant association:BbandTtgenotypes can be associated with myositis in the Hungarian population we studied. We underline the importance of our result in the estimated prevalence of four-marker haplotypes.

Objective: To describe the methodology used to develop new classification criteria for adult and juvenile idiopathic inflammatory myopathies (IIM) and their major subgroups. Methods: An international, multidisciplinary group of myositis experts produced a set of 93 potentially relevant variables to be tested for inclusion in the criteria. Rheumatology, dermatology, neurology, and pediatric clinics worldwide collected data on 976 IIM cases (74% adults, 26% children) and 624 non-IIM comparator cases with mimicking conditions (82% adults, 18% children). The participating clinicians classified each case as IIM or non-IIM. Generally, the classification of any given patient was based on few variables, leaving remaining variables unmeasured. We investigated the strength of the association between all variables and between these and the disease status as determined by the physician. We considered three approaches: (1) a probability-score approach, (2) a sum-of-items approach criteria, and (3) a classification-tree approach. Results: The approaches yielded several candidate models that were scrutinized with respect to statistical performance and clinical relevance. The probability-score approach showed superior statistical performance and clinical practicability and was therefore preferred over the others. We developed a classification tree for sub-classification of patients with IIM. A calculator for electronic devices, such as computers and smart phones, facilitates the use of the EULAR/ACR classification criteria. Conclusions: The new EULAR/ACR classification criteria provide a patient’s probability of having IIM for use in clinical and research settings. The probability is based on a score obtained by summing the weights associated with a set of criteria items.

Resume Nous rapportons le cas d’une patiente ayant presente une polymyosite avec presence d’anticorps anti-Jo1 associee a un adenocarcinome pulmonaire. Le diagnostic de polymyosite a repose sur les symptomes, les resultats electromyographiques et l’elevation des enzymes musculaires dont la creatine kinase et la lactate dehydrogenase. La positivite des anticorps anti-Jo1, l’hyperleucocytose et l’elevation des marqueurs tumoraux CA 15-3 et CA 72-4 ont egalement permis le diagnostic positif. Le caractere malin de la tumeur a ete confirme par la biopsie transthoracique a l’aiguille, realisee deux ans apres l’apparition des premiers signes cliniques de polymyosite. Apres l’exerese tumorale, la polymyosite etait en remission. Etant donnes les symptomes et la survenue concomitante de la tumeur et de la polymyosite, une origine paraneoplasique a ete suspectee.

Idiopathic inflammatory myopathies are systemic, autoimmune diseases characterized by proximal symmetrical muscle weakness. We review the myositis-associated and myositis-specific autoantibodies, among them the anti-SRP autoantibody. Among those autoimmune myopathy cases, that are associated with autoantibodies, we can detect anti-SRP autoantibody positive myositis cases. We describe the role of signal recognition particle, its structure and role in protein biosynthesis. We review how necrotizing autoimmune myopathy is identified, and the differences from classical polymyositis. The anti-SRP titer correlates with disease activity. We present some cases to show how the disease appears in childhood and also some rare cases from the literature. Finally we present a case to draw attention to the importance of this disease.

Objective.To identify early echocardiographic abnormalities at the time of diagnosis of polymyositis (PM) and dermatomyositis (DM) and follow the echocardiographic findings during the first 3 months of therapy.Methods.We included 30 PM/DM patients (23/7) with a mean age of 42.3 ± 1.6 years and without cardiovascular symptoms. Age-matched healthy patients served as controls. Clinical characteristics were recorded. Traditional echocardiography and tissue Doppler imaging (TDI) were performed to measure systolic [ejection fraction, right ventricular fractional area change (RV FAC), lateral and tricuspid annulus s velocities] and diastolic echocardiographic variables (mitral inflow velocities: E, A; deceleration time: DT; lateral and tricuspid annulus e′, a′ velocities, lateral E/e′).Results.The left and right ventricular systolic dysfunction detected by TDI at the time of the PM/DM diagnosis improved, and characteristic values at the end of the followup period were comparable to those of the controls (lateral s: 10.6 ± 0.2, 8.7 ± 0.4, 9.6 ± 0.3, 11.3 ± 0.2 cm/s; RV FAC: 45.2 ± 2.3, 36.9 ± 1.5, 42.2 ± 1.3, 46.9 ± 1.2%; tricuspid s: 13.3 ± 0.2, 9.5 ± 0.4, 10.3 ± 0.3, 11.6 ± 0.5 cm/s; control, 0, 1, and 3 mos, respectively). Measurements indicated the development of diastolic dysfunction at 3 mos (E/A: 1.4 ± 0.1, 1.29 ± 0.05, 1.03 ± 0.05, 0.92 ± 0.05; DT: 148.6 ± 3.6, 157.3 ± 5.7, 168.3 ± 6.0, 184.3 ± 6.2 ms; lateral e′: 12.8 ± 0.3, 12.1 ± 0.5, 10.2 ± 0.6, 10.8 ± 0.8 cm/s; E/e′: 5.6 ± 0.1, 5.0 ± 0.22, 6.92 ± 0.46, 7.64 ± 0.47; control, 0, 1, and 3 mos, respectively).Conclusion.TDI is a useful method to detect early cardiac abnormalities complementing the conventional echocardiographic measurements. LV and RV systolic dysfunction found in the acute phase significantly improved during the first 3 months of therapy; however, deterioration of diastolic dysfunction was also observed.

Idiopathic inflammatory myopathy (called also myositis) is a systemic autoimmune disease mainly characterised with proximal muscle weakness. The most frequent subsets are polymyositis and dermatomyositis. The epidemiology of these diseases is not entirely explored. There is a need to build national and international registries which may help to obtain more data. The Myositis Team at the Department of Clinical Immunology, University of Debrecen, has been established in 1975.The aim of the authors was to obtain epidemiological data on this disease.The authors analysed the database of the National Health Insurance Fund Administration of Hungary which included 1119 patients with myositis, of which 289 patients were followed up by the authors.The average incidence of the disease was found to be 0.95/100.000/year. The male/female ratio was 1/2. Dermatomyositis occurred both in children and adult, but polymyositis was found mainly in adults. These epidemiological data partly correlate with those published in the international literature.The authors propose to establish a National Myositis Registry in the frame of multicentric collaboration in order to have more information about the disease.Bevezetés: Az idiopathiás inflammatoricus myopathiák (más néven myositisek) szisztémás autoimmun betegségek, amelyek közös jellemzője az immunmediált izomgyulladás és a proximalis izomgyengeség. Két leggyakoribb kórformája a polymyositis és dermatomyositis. A betegség etiológiája részben ismert, epidemiológiai adatok csak néhány országban állnak rendelkezésre. Folyamatban van egy nemzetközi és egy magyar myositisregiszter kialakítása, amely adatbázisok elősegítenék a betegségek pontosabb megismerését. A Debreceni Egyetem Klinikai Immunológia Tanszék Myositis Munkacsoportja 1975 óta gondoz myositises betegeket. Célkitűzés: A szerzők a magyar myositises betegek epidemiológiai adatainak felmérését tűzték ki célul. Módszer: Az Országos Egészségbiztosítási Pénztár adatbázisa szerint 1999 és 2010 között myositis miatt kezelt 1119 beteg, köztük a szerzők tanszékén gondozott 289 beteg adatait elemezték. Eredmények: Megállapították, hogy a myositis átlagos incidenciája 0,95/100000 fő évente. A férfi:nő arány 1:2. Dermatomyositis gyermekeknél és felnőtteknél egyaránt előfordul, de a polymyositis elsősorban a felnőttek betegsége. A magyar epidemiológiai adatok részben korrelálnak a korábbi irodalmi adatokkal. Következtetések: A szerzők célja multicentrikus együttműködés keretein belül egy részletes nemzeti myositisregiszter létrehozása az adatok további elemzése céljából. Orv. Hetil., 2014, 155(41), 1643–1646.

PURPOSE OF REVIEW Clinical registries and biorepositories have proven extremely useful in many studies of diseases, especially rare diseases. Given their rarity and diversity, the idiopathic inflammatory myopathies, or myositis syndromes, have benefited from individual researchers' collections of cohorts of patients. Major efforts are being made to establish large registries and biorepositories that will allow many additional studies to be performed that were not possible before. Here, we describe the registries developed by investigators and patient support groups that are currently available for collaborative research purposes. RECENT FINDINGS We have identified 46 myositis research registries, including many with biorepositories, which have been developed for a wide variety of purposes and have resulted in great advances in understanding the range of phenotypes, clinical presentations, risk factors, pathogenic mechanisms, outcome assessment, therapeutic responses, and prognoses. These are now available for collaborative use to undertake additional studies. Two myositis patient registries have been developed for research, and myositis patient support groups maintain demographic registries with large numbers of patients available to be contacted for potential research participation. SUMMARY Investigator-initiated myositis research registries and biorepositories have proven extremely useful in understanding many aspects of these rare and diverse autoimmune diseases. These registries and biorepositories, in addition to those developed by myositis patient support groups, deserve continued support to maintain the momentum in this field as they offer major opportunities to improve understanding of the pathogenesis and treatment of these diseases in cost-effective ways.

Idiopathic inflammatory myopathies are systemic autoimmune diseases characterized by progressive proximal muscle weakness. Cancer-associated myositis represents the worst prognostic group within this heterogeneous disease.The aim of this study was to reveal factors which increase the risk factors for association of cancerous disease in patients with myositis. Furthermore, the authors explored the most common types of associated malignancies in their patients with myositis and characterize the clinical findings in a sub-group of anti-p155/140 positive patients.In this retrospective study, myositis patients with and without associated cancer were analysed (32 and 64 patients, respectively). In addition, anti-p155/140 positive and negative groups were compared, irrespective to the presence of associated malignancies.The risk for associated malignancy was higher in patients with severe muscle and skin symptoms and those with dermatomyositis. Furthermore, increased risk for malignancy was noted in the presence of particular skin symptoms and the absence of systemic symptoms. The anti-p155/140 antibody was proved to be a feasible marker of an independent clinical sub-group which overlapped clinical characteristics with cancer-associated myositis.These results may help the identification of patients with myositis with a higher risk for associated malignancy.Bevezetés: Az idiopathiás inflammatoricus myopathiák szisztémás autoimmun betegségek, jellegzetességük a proximalis végtagövi izmok progresszív gyengesége. A heterogén betegségcsoport legrosszabb prognózisú alcsoportja a tumorral társult myositis. Célkitűzés: Jelen tanulmány célja, hogy felderítse azokat a tényezőket, amelyek társuló daganatos megbetegedés kialakulásának kockázatát fokozzák myositises betegek esetében. További célja, hogy meghatározza a myositissel gyakran társuló daganatok típusait; az anti-p155/140 antitest jelenlétével összefüggő klinikai kép jellegzetességeit, különös tekintettel az antitest és a tumorral társult myositis kapcsolatára. Módszer: A szerzők a vizsgálatban részt vevő betegek klinikai dokumentációinak retrospektív elemzésével összehasonlították a kialakított primer, tumorral nem társult (n = 64) és tumorral társult (n = 32) myositises betegcsoportokat; valamint anti-p155/140 antitest pozitív és negatív alcsoportokat a legfontosabb klinikai, laboratóriumi és immunológiai tulajdonságok szempontjából. Eredmények: Daganat kialakulásának kockázatát növelő tényezők a súlyos izom- és bőrtünetek, dermatomyositis diagnózisa, egyes bőrtünetek jelenléte és a szisztémás tünetek hiánya. Az anti-p155/140 antitest önálló szerológiai alcsoportot jelöl ki, amely tulajdonságaiban átfedést mutat a tumorral társult myositissel. Következtetések: A vizsgálat eredményei segíthetik a daganat kialakulásának nagyobb kockázatával bíró myositises betegek azonosítását. Orv. Hetil., 2014, 155(36), 1437–1444.

The authors discuss a rare case of a 25-year-old female patient having dermatomyositis associated with celiac disease and ulcerative colitis. The idiopathic inflammatory myopathies are systemic, chronic, immune-mediated diseases characterized by proximal, symmetrical muscle weakness. Many examples from the literature refer that celiac disease occurs more often in patients with myositis than in the general population, but its association with ulcerative colitis is a real rarity in the international literature.A szerzők az idiopathiás inflammatorikus myopathia ritka, colitis ulcerosával és coeliakiával társult esetét mutatják be egy általuk kezelt, 25 éves dermatomyositises nőbeteg kórtörténetén keresztül. Az idiopathiás inflammatorikus myopathiák szisztémás, krónikus, immunmediált megbetegedések, amelyeket a proximalis végtagizmok szimmetrikus gyengesége jellemez. Irodalmi példák utalnak rá, hogy a coeliakia gyakrabban jelentkezik myositisben, mint az átlagpopulációban. Colitis ulcerosával való asszociációja azonban irodalmi ritkaságnak számít. Orv. Hetil., 2014, 155(26), 1033–1038.

In order to develop a preliminary core set of disease outcome measures for use in clinical trials of idiopathic inflammatory myopathies (IIM), we evaluated those measures used in previous trials, assessed the validation of published instruments and discussed these at an international consensus conference. The initial proposals were further refined by a multidisciplinary group of adult and paediatric specialists experienced in IIM using the Delphi method. The proposed preliminary core set of disease activity measures consists of five domains: physician and patient/parent global assessments of disease activity; muscle strength; physical function; serum activity of muscle enzymes; and an assessment tool to capture extra-skeletal muscle disease activity. The group recommended further development of a core set of disease damage measures for assessment of persistent changes in anatomy, pathology and function of at least 6 months' duration. The group recommended that patient-reported outcomes should include generic health-related quality of life assessments using the Medical Outcomes Study 36-item Short Form (SF-36) health survey in adult IIM patients and a validated quality of life instrument for paediatric patients. We propose the core set of outcome measures as a minimum group of assessments to include in all IIM therapeutic studies. The use of this core set should assist in standardizing outcome measurement and in optimizing therapeutic trials in myositis.

BackgroundLow serum vitamin D concentrations have been reported in several autoimmune disorders.ObjectiveTo assess whether low serum vitamin D concentrations are related to disease activity of patients with systemic lupus erythematosus (SLE).Methods378 patients from several European and Israeli cohorts were pooled and their disease activity was measured by two different methods: 278 patients had SLE disease activity-2000 (SLEDAI-2K) scores and 100 patients had European Consensus Lupus Activity Measurement (ECLAM) scores. In order to combine the two systems the scores were converted into standardised values (z-scores), enabling univariate summary statistics for the two variables (SLEDAI-2K and ECLAM). The commercial kit, LIAISON 25-OH vitamin D assay (310900-Diasorin) was used to measure serum concentration of 25-OH vitamin D in 378 patients with SLE.ResultsA significant negative correlation was demonstrated between the serum concentration of vitamin D and the standardised values (z-scores) of disease activity scores as measured by the SLEDAI-2K and ECLAM scales (Pearson's correlation coefficient r=−0.12, p=0.018).ConclusionsIn a cohort of patients with SLE originating from Israel and Europe vitamin D serum concentrations were found to be inversely related to disease activity.

To the Editor: Pregnancy in autoimmune diseases may be complicated for both the fetus and the mother. Polymyositis (PM) and dermatomyositis (DM) are autoimmune diseases that affect women more often than men, and can occur before childbearing years1,2. Complications during pregnancy were frequently reported in patients with PM/DM with active disease, whereas there seems to be a low risk for the fetus and mother in women with a well-controlled disease at time of conception2,3,4,5,6,7,8,9,10. Our aims were to assess the pregnancy outcome in myositis. Based on international collaboration, records for women with PM/DM who had been pregnant after the diagnosis of myositis were searched in 4 countries using the clinical databases of contributing hospitals. There were 23 women identified: Czech Republic (n = 8), Hungary (n = 9), Sweden (n = 5), and Poland (n = 1). All 23 women were white. Medical records were retrospectively reviewed using a standardized protocol. Normal delivery was defined when a healthy newborn weighing > 2500 g was delivered after 37 weeks of pregnancy. Premature delivery was defined when the pregnancy … Address correspondence to Dr. M. Nagy-Vincze, Division of Clinical Immunology, Department of Internal Medicine, University of Debrecen, Moricz Zs. u. 22, H-4032 Debrecen, Hungary. E-mail: melinda.nagyvincze{at}gmail.com

Idiopathic inflammatory myopathies are chronic, systemic autoimmune diseases, characterized by symmetric and progressive weakness of proximal muscles in the upper and lower extremities. Treatment of the disease presents a complex challenge and it needs practical knowledge. In this review the authors summarize current treatment options, and discuss intravenous immunoglobulin treatment in therapy-unresponsive cases. Relevant data from the international literature is collected, too. Benefits and side effects of this treatment are also disclosed.Az idiopathiás gyulladásos myopathiák krónikus, szisztémás autoimmun betegségek, amelyek a végtagizmok szimmetrikus, progresszív gyengeségével járnak. A betegség kezelése nagy gyakorlatot igénylő, összetett feladat. A közleményben a szerzők áttekintik a jelenleg rendelkezésre álló kezelési lehetőségeket idiopathiás gyulladásos myopathiákban, majd részletesen foglalkozunk az intravénás immunglobulin alkalmazhatóságával a terápiarefrakter esetekben. A szerzők célja, hogy minél több irodalmi példával, nemzetközi tapasztalattal támasszák alá a módszer hatékonyságát, figyelve előnyeire és esetleges hátrányaira is. Orv. Hetil., 2013, 154, 723–728.

Introduction We studied the effect of rosuvastatin on endothelial and macrovascular function, cardiovascular risk factors and the complement pathway in patients with systemic sclerosis (SSc). Methods Altogether 28 patients with SSc underwent laboratory and complex vascular assessments before and after six months of 20 mg rosuvastatin treatment. Flow-mediated dilation (FMD) of the brachial artery, as well as carotid artery intima-media thickness (ccIMT), carotid-femoral and aorto-femoral pulse wave-velocity (PWV) were analyzed by ECG-synchronized ultrasound. Ankle-brachial index (ABI) was determined by Doppler, and forearm skin microcirculation was assessed by Laser Doppler perfusion monitoring. Results Brachial artery FMD significantly improved upon rosuvastatin therapy (2.2% ± 3.3% before versus 5.7% ± 3.9% after treatment, P = 0.0002). With regard to patient subsets, FMD significantly improved in the 21 lcSSc patients (from 2.1% to 5.6%, P = 0.001). In the seven dcSSc patients, we observed a tendency of improvement in FMD (from 3% to 6%, P = 0.25). Changes in PWV, ccIMT and ABI were not significant. Mean triglyceride (1.7 ± 0.97 versus 1.3 ± 0.46 mmol/l, P = 0.0004), total cholesterol (5.3 ± 1.6 mmol/l versus 4.2 ± 1.3 mmol/l, P = 0.0003), low density lipoprotein cholesterol (3.0 ± 1.3 versus 2.2 ± 1.0 mmol/l, P = 0.005) and C-reactive protein levels (CRP) (5.1 ± 5.2 versus 3.4 ± 2.7, P = 0.01) levels significantly decreased after rosuvastatin treatment. Mean C3, C4 and IC levels also decreased significantly as compared to pretreatment values. Conclusions Six-month rosuvastatin therapy improves endothelial function and lowers CRP, C3, C4 and IC levels indicating possible favourable effects of this statin on the cardiovascular and immune system in SSc.

Anti-citrullinated protein/peptide antibodies (ACPAs) have recently been identified as sensitive and specific diagnostic and prognostic markers in rheumatoid arthritis (RA). In this study, we wished to assess the diagnostic performance of the third-generation anti-CCP3.1 assay, but with special focus on the rheumatoid factor (RF)-negative RA population. Anti-CCP as well as anti-MCV was tested in 119 RA patients and 118 control patients using second and third-generation assays. Using these optimal cut-off levels, the diagnostic sensitivity of anti-CCP2, CCP3, and CCP3.1 was 74.8, 78.8, and 83.0%, respectively, while the specificity was 95.7, 96.6, and 98.3%, respectively. The diagnostic performance of the CCP3.1 test was significantly better than that of CCP2 (p = 0.041). In addition, the CCP3.1 test performed significantly better than the MCV test as well (p = 0.0003). When the diagnostic performance of the CCP3.1, CCP2, and MCV tests was compared in the 35 RF-negative patients, the CCP3.1 test exerted significantly better performance than the MCV test (p = 0.006), and it also showed a tendency of better performance in comparison with the CCP2 test (p = 0.131). In conclusion, the CCP3.1 assay can significantly increase the sensitivity of ACPA testing in RF-negative RA, as well as in the total RA population.

Autoantibodies against several aminoacyl-transfer-RNA synthetases have been described in patients with myositis; anti-threonyl-tRNA synthetase (anti-PL-7) is one of the rarest. We describe the clinical and laboratory characteristics of a cohort of European anti-PL-7 patients, and compare them with previously reported cases. This multicenter study of patients positive for anti-PL-7, identified between 1984 and 2011, derives from the EUMYONET cohort. Clinical and serologic data were obtained by retrospective laboratory and medical record review, and statistical analyses were performed with chi-squared and Fisher exact tests. Eighteen patients, 15 women, were anti-PL-7 antibody positive. Median follow-up was 5.25 years (interquartile range, 2.8-10.7 yr), and 4 patients died. All patients had myositis (12 polymyositis, 5 dermatomyositis, and 1 amyopathic dermatomyositis), 10 (55.6%) had interstitial lung disease, and 9 (50%) had pericardial effusion. Occupational exposure to organic/inorganic particles was more frequent in patients with interstitial lung disease than in the remaining patients (5 of 10 vs. 1 of 7; p = 0.152), although the difference was not significant. Concurrent autoantibodies against Ro60 and Ro52 were seen in 8 of 14 (57%) patients studied. In the literature review the most common manifestations of anti-PL-7 antisynthetase syndrome were interstitial lung disease (77%), myositis (75%), and arthritis (56%). As in other subsets of the antisynthetase syndrome, myositis and interstitial lung disease are common features of the anti-PL-7 antisynthetase syndrome. In addition, we can add pericarditis as a possible manifestation related to anti-PL-7 antibodies.

Objectives HLA-DRB1*03 is strongly associated with anti-Jo-1-positive idiopathic infl ammatory myopathies (IIM) and there is now increasing evidence that Jo-1 antigen is preferentially expressed in lung tissue. This study examined whether smoking was associated with the development of anti-Jo-1 antibodies in HLA-DRB1*03-positive IIM. Methods IIM cases were selected with concurrent information regarding HLA-DRB1 status, smoking history and anti-Jo-1 antibody status. DNA was genotyped at DRB1 using a commercial sequence-specifi c oligonucleotide kit. Anti-Jo-1 antibody status was established using a line blot assay or immunoprecipitation. Results 557 Caucasian IIM patients were recruited from Hungary (181), UK (99), Sweden (94) and Czech Republic (183). Smoking frequency was increased in anti-Jo-1positive IIM cases, and reached statistical signifi cance in Hungarian IIM (45% Jo-1-positive vs 17% Jo-1-negative, OR 3.94, 95% CI 1.53 to 9.89, p

Multiple sclerosis (MS) is a common demyelnating disorder of the central nervous system (CNS) and ethiopathogenesis has yet to be fully elucidated. The disease may present in several clinical forms that are closely associated with disease morbidity. In recent years various environmental and hormonal factors have been implicated in the pathogenesis of autoimmunity.To evaluate ferritin and prolactin levels in MS patients and their correlation with clinical manifestations of the disease.Serum samples from 150 multiple sclerosis patients were evaluated for demographic characteristics, clinical parameters as well as prolactin and ferritin levels utilizing the Liaison chemiluminescent immunoassays (DiaSorin, Italy). Sera from 100 matched healthy donors were used as controls.Hyperprolactinemia was documented in 10 of 150 MS patients (6.7%) and hyperferritinemia in 12 (8%), both of which were significantly more common in this group compared with healthy controls (P0.01 and P = 0.02 respectively). Among female MS patients, elevated prolactin levels were related to the secondary-progressive type of disease (P = 0.05), whereas hyperferritinemia was associated with male gender (P = 0.03) and with the relapsing-progressive type of the disease (P = 0.02). An inverse association was found between hyperferritinemia and the relapsing-remitting type of MS in male patients (P = 0.05)Our results suggest a plausible association between these biomarkers and certain clinical types and gender among MS patients. Further studies combining clinical data, CNS imaging and these markers are warranted.

The role of vitamin D as an immune modulator has been emphasized in recent years, and low levels of the hormone were observed in several autoimmune diseases including multiple sclerosis and systemic lupus erythematosus. Vitamin D mediates its effect though binding to vitamin D receptor (VDR), and activation of VDR-responsive genes. While VDR gene polymorphism was found to associate with autoimmune thyroid diseases (AITDs), few studies examined levels of vitamin D in these patients and those that did yielded conflicting results. We therefore undertook to evaluate the levels of vitamin D in patients with AITDs compared to patients with non-AITDs and healthy controls. Serum vitamin D (25-OH) levels were measured in 50 patients with AITDs, 42 patients with non-AITDs and 98 healthy subjects, utilizing the LIAISON chemiluminescence immunoassay (DiaSorin, Saluggia, Italy). Vitamin D deficiency was designated at levels lower than 10 ng/ml. Antithyroid antibodies, thyroid functions and demographic parameters were evaluated in all patients. The prevalence of vitamin D deficiency was significantly higher in patients with AITDs compared with healthy individuals (72% versus 30.6%; P

Objective. Serum cytokines play an important role in the pathogenesis of myositis by initiating and perpetuating various cellular and humoral autoimmune processes. The aim of the present study was to describe a broad spectrum of T- and B-cell cytokines, growth factors and chemokines in patients with idiopathic inflammatory myopathies (IIMs) and healthy individuals. Methods. A protein array system, denoted as multiplex cytokine assay was utilized to measure simultaneously the levels of 24 circulating cytokines, including B-cell activating factor (BAFF) and a proliferation inducing ligand (APRIL) of patients with IIMs and healthy individuals. Additionally, correlational clustering and discriminant function analysis (DFA), two multivariate, supervised analysis methods were employed to identify a subset of biomarkers in order to describe potential functional interrelationships among these pathological cytokines. Results. Univariate analysis demonstrated that a complex set of immune and inflammatory modulating cytokines are significantly up-regulated in patients with IIMs relative to unaffected controls including IL-10, IL-13, IFN-α, epidermal growth factor (EGF), VEGF, fibroblast growth factor (FGF), CCL3 [macrophage inflammatory protein (MIP-1α)], CCL4 (MIP-1β) and CCL11 (eotaxin), whereas G-CSF was significantly reduced in IIM patients. Correlational clustering was able to discriminate between, and hence sub-classify patients with IIMs. DFA identified EGF, IFN-α, VEGF, CCL3 (MIP-1α) and IL-12p40, as analytes with the strongest discriminatory power among various myositis patients and controls. Conclusions. Our findings suggest that these factors modulate myositis pathology and help to identify differences between subsets of the disease.

The idiopathic inflammatory myopathies are systemic autoimmune diseases characterized by chronic inflammation, resulting in the progressive weakness of the proximal muscles. Myositis-specific or myositis-associated autoantibodies can often be found in serum of polymyositis and dermatomyositis patients. This autoantibody presence may play a significant role in patient diagnosis and classification. We present a female polymyositis patient characterized with serious muscle weakness and lung involvement. Anti-Jo1 antibodies were detected in the patient's serum at the time of diagnosis. After 5 years of treatment and surveillance, recent laboratory analysis showed the presence anti-SRP antibody in her serum.

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent venous thrombosis or arterial occlusive events and fetal losses associated with elevated levels of antiphospholipid antibodies (aPLs).The presence of antinuclear, anti-beta2-glycoprotein I, and anticardiolipin antibodies were investigated in 60 consecutive children with epilepsy who were followed up in a single Hungarian center.Almost 50% (28/60) of the patients were ANA positive. Twelve (20%) patients had moderate titer (1:160) of ANA. Anti-C1q antibody was positive in 4 cases, all of them symptom free considering renal manifestation of lupus. Interestingly, only 1 child had aCL antibody, while 6/43 patients were LAC positive. Five were also ANA positive among the LAC positive patients (4 children with moderate titer). Anti-beta2GPI antibody positivity was not detected in this cohort of patients.The clinical relevance of aPL tests in childhood are difficult to explain. In the present study, obviously lower total prevalence of aPLs (aCL and anti-beta2GPI) was observed in children with epilepsy than in previously reported investigations (20-30%). The higher amount of LAC-positive patients indicates that coagulation studies (LAC) should be included in the neuroimmunological assessment of suspected APS patients with epileptic disorders. The difference between the results of serological and LAC studies could be explained by the possible positivity of other, uninvestigated antibodies. The wide spectrum of detected immunological alterations highlight the importance of the participation of pediatric rheumatologists in the management of patients with idiopathic epilepsy or with secondary induced autoimmune disease due to antiepileptic medications.

Objective The current study was performed in order to determine the prevalence of different myositis-specific and myositis-associated antibodies, as well as their association with clinical characteristics, disease course and response to therapy in 169 Hungarian patients with idiopathic inflammatory myopathy. Methods Sera of 130 primary and 39 overlap myositis including systemic sclerosis (13), rheumatoid arthritis (12), systemic lupus erythematosus (5) and Sjogren's syndrome (9) cases were analyzed. Antinuclear antibody, scleroderma-associated antibodies (anti-centromere, anti-topoisomerase I), anti-Jo-1, anti-PL-7, anti-PL-12, anti-Mi-2, anti-SRP and anti-PM-Scl, anti-Ku, anti-SS-A, anti-SS-B, anti-U1snRNP were tested. Autoantibody results were compared with clinical characteristics, disease course of overlap versus primary myositis patients, as well as with response to therapy. Results Associated connective tissue disease occurred in 23.1% of the patients. Myositis-associated antibodies were found in 8.5% of primary myositis patients, indicating that 11 additional primary myositis patients (23% vs. 29.6%) can be classified as overlap in all cohort according to the newly proposed diagnostic criteria. Polymyositis was found to be the most common myositis form in overlap myositis (87.2%), while scleroderma was the most common disease associated (33.3%). ANA was positive in 25.4% of primary and in 61.5% of overlap myositis cases. Altogether 39.6% of myositis patients (n = 67) had autoantibodies, most commonly anti Jo-1 (18.3%) correlating with a polycyclic disease course. Conclusion Inclusion of myositis-specific and associated antibodies into the newly proposed diagnostic criteria for inflammatory myopathies is of great importance in order to determine subclasses and to introduce adequate therapy in time.

Patients with autoimmune diseases may have increased vascular risk leading to higher mortality rates. Novel imaging techniques are necessary for the early assessment and management of these patients. In this study, we compared augmentation index (AIx) and pulse wave velocity (PWV), indicators of arterial stiffness, to brachial arterial flow-mediated vasodilation (FMD) and common carotid artery intima-media thickness (ccIMT), standard indicators of endothelial dysfunction and atherosclerosis, respectively. We wished to assess the vascular status of autoimmune patients by using a novel, cheap, and reproducible technique, the arteriograph. Altogether, 101 patients with systemic autoimmune diseases including primary antiphospholipid syndrome, systemic sclerosis, rheumatoid arthritis, and polymyositis, all having various types of vasculopathies, as well as 36 healthy individuals were investigated. Arterial stiffness was assessed by a TensioClinic arteriograph, a recently validated technique. Brachial arterial FMD and ccIMT were determined using high-resolution ultrasonography. Autoimmune patients exerted impaired FMD (3.7 +/- 3.8%), increased ccIMT (0.7 +/- 0.2 mm), AIx (1.2 +/- 32.2%), and PWV (9.7 +/- 2.4 m/s) in comparison to control subjects (FMD = 8.4 +/- 4.0%; ccIMT = 0.6 +/- 0.1 mm; Aix = -41.1 +/- 22.5%; PWV = 8.0 +/- 1.5 m/s; p0.05). We found a significant negative correlation of FMD with AIx (R = -0.64; p0.0001) and PWV (R = -0.37; p = 0.00014). There were significant positive correlations between ccIMT and AIx (R = 0.34; p = 0.0009), ccIMT and PWV (R = 0.44; p0.0001), as well as AIx and PWV (R = 0.47; p0.0001). AIx, PWV, and ccIMT positively correlated and FMD negatively correlated with the age of the autoimmune patients. Arterial stiffness indicated by increased AIx and PWV may be strongly associated with endothelial dysfunction and overt atherosclerosis in patients with autoimmune diseases. Assessment of arterial stiffness, FMD, and ccIMT are reproducible and reliable noninvasive techniques for the complex assessment of vascular abnormalities in patients at high risk.

We describe a rare case of concurrent polymyositis and Crohn's disease in a female patient. A 69-year-old female presented in December 2007 with a 5-month history of proximal muscle weakness, pain, fatigue and difficulty in walking and swallowing. Blood tests revealed elevated creatine kinase (3,429 U/l) and lactate dehydrogenase (2,013 U/l) levels. Magnetic resonance imaging found lumbar disc protrusion. Review by immunologists showed a diagnosis of idiopathic inflammatory myopathy. Though electromyography and muscle biopsy at this point were non-specific, corticosteroid treatment was commenced. Her condition worsened precipitously leading to hospitalisation under immunologists. As the provisional diagnosis was polymyositis, we commenced 1.5 mg/kg per day corticosteroid but her muscle power did not improve. Recurrent abdominal symptoms lead to ultrasonography showing intestinal inflammation. While tumour markers were elevated, thorough investigation failed to identify a tumour. Corticosteroid therapy was continued. Persistent abdominal symptoms lead to repeat colonoscopy and biopsy confirming Crohn's disease. Repeat electromyography and muscle biopsy confirmed the diagnosis of polymyositis. Her corticosteroids were tapered off and 5-aminosalicylic acid and azathioprine were started. Her myositic symptoms gradually abated with improvement in her Crohn's disease. She is now able to walk independently and takes 8 mg/day corticosteroids and her muscle enzyme levels are normal. Remember rare systemic associations when dealing with immune-mediated disease. Consider myositis in the differential diagnosis of Crohn's disease associated myopathy. Treating Crohn's disease may lead to improvement in steroid-resistant myositis where the two are associated.

Inclusion body myositis is an acquired inflammatory muscle disease belonging to the family of idiopathic inflammatory myopathy with vacuole formation. Approximately 15-28% of idiopathic inflammatory myopathy patients suffer from inclusion body myositis. Early diagnosis is very important due to the slowly progressive disease course and consecutive muscle atrophy. Inclusion body myositis is the most common chronic progressive muscle disease over the age of 50 years. Both degenerative processes including beta-amyloid accumulation and inflammatory processes, such as CD8 positive T-lymphocytes mediated cellular cytotoxicity take part in the pathomechanism of the inclusion body myositis. These findings are well demonstrated by the parallel presence of vacuolized muscle fibers rarely invaded by T cells and intact muscle fibers invaded by inflammatory T-cells in biopsy specimens. MHC-I/CD8 complex was introduced into the newly revised diagnostic criteria as a specific immune marker which helps to differentiate inclusion body myositis from aspecific inflammation present in other muscle dystrophies. Clinically both proximal and distal muscle weakness, respiratory muscle weakness and dysphagia are present. Interstitial lung disease is infrequent. Inclusion body myositis responds poorly to antiinflammatory treatment due to the predominant degenerative processes and it often results in only biochemical response instead of clinical. Diagnosis and differential diagnosis of inclusion body myositis are a very special challenge for the physician due to the diagnostic procedures which need immunohistochemical background. New therapeutic targets, monoclonal antibodies against the costimulatory molecules, anticytokine therapy may provide further improvement in the quality of life of inclusion body myositis patients.

The strongest predictive factor for the development of interstitial lung disease (ILD) in myositis (IIM) patients is the presence of different antisynthetase antibodies. The aim of this study was to compare the clinical characteristics, radiological findings and therapeutic response between the anti-SS-A positive and negative antisynthetase syndrome (ASS) patients. A prospective study of 315 IIM patients was conducted including 27 anti-Jo-1 positive ASS patients. Mean disease duration was 46.6 (range 4-198) months. All patients fulfilled the classification criteria for IIM. All patients underwent chest radiography, pulmonary function tests and HRCT at he time of diagnosis and 6 months after the immunosuppressive therapy. Routine laboratory tests, RF, ANA, anti-ENA, anti-SS-A, anti-histidyl-transfer RNA antibody (Jo-1) measurements were performed in all patients. ILD was found to be present in 70.4% of ASS patients. The anti-SS-A negative ASS group had a more frequent association with alveolitis and responded well to immunosuppressive therapy (p < 0.05). HRCT scan showed more fibrosis in the SS-A positive group. 15.8% of patients died due to pulmonary or cardiac complications. In conclusion, coexistence of anti-SS-A and anti-Jo-1 antibody may be a good predictor for a more coarse and severe ILD in IIM patients who require a more aggressive approach in therapy.

Antisynthetase syndrome is a type of Idiopathic Inflammatory Myopathy (IIM) associated with anti-Jo1 antibody. Kennedy's disease or X-linked spinal and bulbar muscular atrophy (SBMA) is a rare neuromuscular disease. We describe the case report of a 53-year-old man who presented with proximal muscle weakness and a history of bilateral hand tremor. Initial physical examination demonstrated "mechanic's hands", Raynaud's phenomenon, having elevated creatine kinase and lactate dehydrogenase levels and anti-Jo1 antibody positivity. His muscle biopsy demonstrated inflammatory infiltrate characteristic of IIM. Considering these findings, we reached the diagnosis of antisynthetase syndrome and commenced immunosuppressive therapy. On follow-up examination, he had developed dysphagia, and his tremor had worsened. His electroneurogram result was characteristic of Kennedy's disease, and the genetic test result showed an allele with 44 CAG repeat expansion in the androgen receptor gene of the X chromosome. This confirmed that in addition to antisynthetase syndrome, he also had Kennedy's disease. This patient now receives immunology and neurology follow-up. His symptoms have improved with low dose corticosteroids, propranolol for tremor, vitamin B supplementation, and physiotherapy. This article presents a rare case report of a patient with concurrent antisynthetase syndrome and Kennedy's disease, both of which lead to elevated creatine kinase levels and muscle weakness, thus, underpinning the importance of careful follow-up of patients with IIM and maintaining an open mind to other diagnoses when faced with refractory and/or new symptoms.

To analyze clinical and laboratory data of patients diagnosed with dermato- or polymyositis between 1985 and 2006, retrospectively, with particular emphasis on association with malignant diseases.A thorough clinical assessment was performed on the immunological features and therapeutic responses, as well as survival data. In the case of 155 myositis patients, HLA haplotypes were also investigated.Out of 309 patients with myositis in our database, malignant disease was found in 37 cases. Thirty patients had dermatomyositis (28.8%), and 7 had polymyositis. In 64.8% of the cases, the malignancy and myositis appeared within 1 year. The highest probability for tumor recognition was before 2 years and after 3 years of the diagnosis of myositis (28 cancer-associated myositis): most frequent was breast tumor, and adenocarcinoma was the predominant histological type. The skin lesions and diaphragmatic involvement were more severe; distal muscle weakness was conventional, along with proximal muscle weakness and frequent immobility. Creatine kinase and lactate dehydrogenase elevations were lower than in primary myositis, and when controlled 1 month after surgical treatment of the malignant disease, these values showed significant reduction. Tumor markers did not predict the occult tumors. We found no correlation between the presence of tumor and DRB1-0301 and -01 alleles.In patients with tumor-associated myositis, it was more frequently necessary to administer other immunosuppressive drugs along with glucocorticoids. The successful treatment of the underlying malignant disease improved the clinical course of myositis. The overall survival rate was considerably worse when compared to other forms of myositis.

Nailfold capillaroscopy is widely used in autoimmune patients to determine capillary morphology. Laser Doppler imaging (LDI) is a relatively new method for measuring the microcirculation of cutaneous perfusion. The aim of this study was to investigate the capillary morphology and microcirculation among patients with Sjögren's syndrome (SS) and poly/dermatomyositis (PM/DM) with these two non-invasive methods and to detect secondary Raynaud's syndrome (SRS) in these autoimmune diseases.Thirty patients with primary SS, 30 patients with PM/DM, 30 patients with primary Raynaud's syndrome (PRS), and 30 healthy volunteers were included in the study. Nailfold capillaroscopy and LDI were performed on each patient.A comprehensive analysis was performed among the patients and healthy individuals. Among SS patients avascularity and among PM/DM patients avascularity and capillary morphology changes were most often detected by capillaroscopy. With LDI the mean steady-state cutaneous perfusion was 1.25 perfusion units (PU) in region of interest 1 (ROI1), 1.22 in ROI2, and 1.49 at the fingertips in PRS patients; the corresponding values were 1.2, 1.03, and 1.48 PU in SS, 0.91, 0.76, and 1.19 PU in PM/DM, and 1.79, 1.62, and 2.2 PU in the controls. The differences were significant between each autoimmune group compared to the control group (p0.02, p0.001, and p0.001, respectively).By using nailfold capillaroscopy, abnormalities in capillary morphology can be detected, and by using LDI, the reduced blood flow in the capillaries can be detected. These investigations can be useful in the detection of SRS, or in distinguishing whether the reduced blood flow is due to primary/systemic autoimmune diseases.

The development of autoimmune diseases may be influenced by hormonal, immunomodulatory, and metabolic pathways. Prolactin (PRL), ferritin, vitamin D, and the tumor marker tissue polypeptide antigen (TPA) were measured in autoimmune diseases: systemic lupus erythematosus (SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA), polymyositis (PM), dermatomyositis (DM), multiple sclerosis (MS), autoimmune thyroid diseases, and antiphospholipid syndrome. Hyperprolactinemia (HPRL) was detected in 24% of PM patients, in 21% of SLE patients, in 6.7% of MS patients, 6% of RA patients, and in 3% of SSc patients. Hyperferritinemia was detected in 23% of SLE patients, 15% of DM patients, 8% of MS patients, and 4% of RA patients. The patients had relatively low levels of 25 OH Vitamin D: the average results (mean +/- SD) were between 9.3 +/- 4.4 to 13.7 +/- 7.1 ng/mL in the different diseases, while the 25 OH Vitamin D concentrations less than 20 ng/mL are regarded as deficient. TPA levels were in the same range of the controls, elevated only in SLE. HPRL, hyperferritinemia, hypovitaminosis D, and TPA levels did not correlate with SLE activity elevated levels of rheumatoid factor or anti-CCP antibodies in RA. HPRL, hyperferritinemia, and hypovitaminosis D have different immunological implications in the pathogenesis of the autoimmune diseases. Preventive treatment with vitamin D or therapy for HPRL with dopamine agonists, may be considered in certain cases. Hyperferritinemia may be used as an acute-phase reactant marker in autoimmune diseases mainly SLE. TPA may be used to indicate the tendency for malignancies.

Anti-cyclic citrullinated peptide (CCP) antibodies have emerged as sensitive and specific serological markers of rheumatoid arthritis (RA). However, antibodies to several other citrulline-containing proteins, including citrullinated fibrin and vimentin, have been detected in patients with RA, suggesting that citrulline is an essential constituent of autoantigens for RA-specific autoantibodies. We examined the diagnostic performance of the newly developed anti-mutated citrullinated vimentin (MCV) antibody assay.Concentrations of anti-MCV, anti-CCP2, and rheumatoid factors (RF) were determined in the sera of 237 individuals: 119 patients with RA and 118 controls, including patients with other rheumatic diseases and healthy subjects. Diagnostic properties were compared by receiver-operating characteristic curve analysis.Using manufacturer's recommended cutoff values, sensitivity and specificity of anti-MCV antibodies were 75.6% and 91.5% in RA, compared to 66.4% and 98.3% for anti-CCP2. Introducing cutoff values to obtain the same 95% specificity resulted in decreased sensitivity of the anti-MCV test (69.7%) and increased sensitivity of the anti-CCP2 test (74.8%). At optimal cutoff levels, 29.4% of IgM RF-negative cases as well as 13.3% of anti-CCP2-negative cases in the RA group were anti-MCV-positive. Double-positivity for anti-MCV and anti-CCP2 provided 98.3% specificity with 97.5% positive predictive value in RA.Overall, the performance of the novel anti-MCV ELISA for the diagnosis of RA is similar to that of the anti-CCP2 test [area under the curve 0.853 (95% CI 0.801-0.905) vs 0.910 (95% CI 0.873-0.946); p not significant]. As the diagnostic spectrum of the anti-MCV assay is somewhat different from that of anti-CCP2, the combined application of the 2 assays can improve the laboratory diagnostics of RA.

A szisztémás autoimmun betegségek a klinikai immunológia és reumatológia tárgykörébe tartozó, jól meghatározott, elkülöníthető betegségcsoportot alkotnak, amelyek hasonlóságuk ellenére számos önálló sajátossággal jellemezhetők. Ez a hasonlóság és különbözőség megnyilvánul mind a kóroki tényezőkben (a genetikai és környezeti faktorok arányában), mind a patomechanizmusban (a sejtes vagy humorális immunválasz dominanciájában), a kórlefolyásban (hullámzó vagy krónikusan progresszív jellegben) és a klinikai tünetek sokszínűségében (számos célszerv vagy egy-egy domináns célszerv/szövet érintettségében). A szerzők jelen munkában négy jellegzetes szisztémás autoimmun betegség, a szisztémás lupus erythematosus, a Sjögren-kór, a dermato-polymyositis és a szisztémás sclerosis sajátosságainak leírása révén ismertetik ezen kórképek és általában a szisztémás autoimmun betegségek közös jellemvonásait és egyidejűleg azt a sokszínűséget, egyedi jellegzetességet, amely még egy-egy kórképen belül is megfigyelhető.