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Familial Mediterranean fever (FMF) is a febrile disease characterized by acute, spontaneously resolving episodes of fever and pain caused by serosal inflammation and associated with mutations in the FMF gene, MEFV. Prophylaxis is maintained with colchicine. To our knowledge, no study has yet shown an association between FMF and cirrhosis of the liver. We conducted the current study to describe cryptogenic cirrhosis in FMF and to examine the possible relationship between the 2 entities. Patients with chronic liver disease were retrospectively identified through a computer search of a registry of 6000 patients with FMF followed in the clinics of the National Center for FMF. Data pertaining to FMF phenotype and genotype and characteristics of the liver disease were abstracted from patients' charts. Cryptogenic cause of cirrhosis was determined by exclusion of known causes of liver disease. Nine patients with cryptogenic cirrhosis were identified, comprising 0.15% of the FMF patient population, a rate significantly higher than the rate of 0.015% of cirrhosis of all types expected in the total population of Israel (p < 0.000). Most patients had typical FMF, with a normal severity score distribution. The mean daily dose of colchicine was 1.4 +/- 0.4 mg, not different from the usual dose. All 7 patients who underwent mutation analysis had 2 mutations. Five of them were homozygous for M694V. Child-Pugh classification was determined in 6 patients at the time of cirrhosis diagnosis, and was classified as A in 4 of them. These findings suggest that MEFV may serve as a modifier gene in cryptogenic cirrhosis. Genetic analysis in patients with cryptogenic cirrhosis unrelated to FMF, particularly patients of a Mediterranean origin, may be warranted in future studies.

Systemic sclerosis (SSc) is a multi-system disease characterized by skin fibrosis and visceral disease. Therapy is organ and pathogenesis targeted. In this review, we describe novel strategies in the treatment of SSc. Utilizing the MEDLINE and the COCHRANE REGISTRY, we identified open trials, controlled trials, for treatment of SSc from 1999 to April 2005. We used the terms scleroderma, systemic sclerosis, Raynaud's phenomenon, pulmonary hypertension, methotrexate, cyclosporin, tacrolimus, relaxin, low-dose penicillamine, IVIg, calcium channel blockers, losartan, prazocin, iloprost, N-acetylcysteine, bosentan, cyclophosphamide, lung transplantation, ACE inhibitors, anti-thymocyte globulin, and stem cell transplantation. Anecdotal reports were omitted.Methotrexate, cyclosporin, tacrolimus, relaxin, low-dose penicillamine, and IVIg may be beneficial in improving the skin tightness in SSc. Calcium channel blockers, the angiotensin II receptor type 1 antagonist losartan, prazocin, the prostacyclin analogue iloprost, N-acetylcysteine and the dual endothelin-receptor antagonist bosentan may be beneficial for Raynaud's phenomenon. Epoprostenol and bosentan are approved for therapy of pulmonary hypertension (PAH). Other options under investigation include intravenous or aerolized iloprost. Cyclophosphamide (CYC) pulse therapy is effective in suppressing active alveolitis. Stem cell and lung transplantation is a viable option for carefully selected patients. Renal crisis can be effectively managed when hypertension is aggressively controlled with angiotensin converting enzyme (ACE) inhibitors. Patients should continue taking ACE inhibitors even after beginning dialysis in hope of discontinuing dialysis. Anti-thymocyte globulin and mycophenolate mofetil appear safe in SSc. The improvement in skin score and the apparent stability of systemic disease during the treatment period suggest that controlled studies of these agents are justified. Stem cell transplantation is under investigation for severe disease. Novel therapies are currently being tested in the treatment of SSc and have the potential of modifying the disease process and overall clinical outcome. The evaluation of these studies is still a difficult process.

Heart or heart-lung transplantations have only rarely been performed in patients with systemic lupus erythematosus (SLE), who like other patients with multi-system autoimmune diseases are traditionally excluded from consideration for such transplantations. In view of the limited experience with heart transplantation in these patients, we report the successful transplantation outcome in a lupus patient and review the literature in relation to graft and recipient conditions.

Antiphospholipid syndrome (APS) can be either primary or secondary to autoimmune diseases, malignancies, infectious diseases, or drug-induced conditions. The aim of this study was to describe a novel overlap syndrome of APS and systemic sclerosis (SSc) in a case series. A retrospective review of medical files of hospitalized patients who were followed in two rheumatology clinics in Israel for the diagnosis of SSc and APS was sought. A MEDLINE search was performed for reports of APS/SSc overlap syndrome. Five patients with the overlap syndrome of APS and SSc were retrieved. The diagnosis of both diseases was confirmed by the American College of Rheumatology classification criteria. Four patients were women and of an older age group (42-68 years old). Three patients had primary APS, and in two patients APS was secondary to SSc. Two of the five patients died. The interval between APS and SSc was < 1-18 years. APS/SSc overlap syndrome is described for the first time as a case series. The patients may be older, with an interval of up to 18 years between diseases. The APS patients did not suffer from SLE. The overlap syndrome was characterized in certain instances with severe disease and two patients died. With relevant clinical manifestations, APS should be sought in SSc patients and treated appropriately.

Object Gastrointestinal involvement in adult dermatomyositis (DM) and polymyositis (PM) is usually mild, resulting from myoenteric dismotility. Severe inflammation of the alimentary tract in cases of adult DM and PM is rare. The purpose of this study was to examine the prevalence and clinical characteristics of inflammatory gastrointestinal involvement in patients with DM. Methods The charts of all cases with polymyositis or dermatomyositis, registered in our rheumatology clinic between 1984 and 2004, were reviewed retrospectively for documentation of severe gastrointestinal involvement. The clinical course and the histopathologic findings in all the patients were noted, and the prevalence of this disorder was computed. Results Among 48 patients with DM or PM, 3 patients with DM and severe gastrointestinal tract manifestations were identified (6% of the study population). Edematous hyperemic bowel wall, with multiple erosions and ulcerous lesions were the prominent endoscopic findings, whereas diffuse mucosal inflammation and multiple vascular ectasias without vasculitis dominated the histologic picture. The resulting clinical course was notable for recurrent abdominal pain and bloody diarrhea, ending catastrophically in two patients with fatal gastrointestinal perforations, despite aggressive immunosuppressive therapy. Conclusions Severe inflammatory gastrointestinal tract disease should be recognized as a grave, albeit rare, manifestation of adult DM that portends a poor prognosis and carries a high rate of fatal complications. The role of vasculopathy in the pathogenesis of this syndrome remains to be determined.

Benign prostatic hypertrophy is the most common benign tumor in males, resulting in prostatectomy in 20-30% of men who live to the age of 80. There are no data on the association of prostatectomy with autoimmune phenomena in the English-language medical literature.To report our experience with three patients who developed autoimmune disease following prostatectomy.Three patients presented awith autoimmune phenomenon soon after a prostectomy for BPH or prostatic carcinoma: one had clinically diagnosed temporal arteritis, one had leukocytoclastic vasculitis, and the third patient developed sensory Guillian-Barré syndrome following prostatectomy.In view of the temporal association between the removal of the prostate gland andthe autoimmune process, combined with previously known immunohistologic features of BPH, a cause-effect relationship probably exists.

Haim-Munk and Papillon-Lefèvre are 2 closely related syndromes, inherited in an autosomal recessive pattern, manifested by palmoplantar keratoderma and early, destructive periodontitis. Recently, mutations in the cathepsin C gene have been recognized in both syndromes. We describe a patient with Haim-Munk syndrome (palmar plantar keratosis and periodontitis) and destructive arthritis of the wrists and shoulder joints, an association that has not been previously described.