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Introduction: Half of the patients with genetic hemochromatosis will have arthritis. Two of these articular involvements are well-known: the arthropathy involving the phalangeal and the metacarpophalangeal joints of the hand, useful for diagnosis, and hip arthropathy. Iron deposits seem to be involved in articular cartilage destruction., Exegesis: We report five cases of patients with hemochromatosis hip involvement. Hip arthropathy revealed hemochromatosis in one case and appeared despite efficient phlebotomies in another case. Three of these patients required hip arthroplasty., Conclusion: Hip arthropathy remains a frequent but unknown event in genetic hemochromatosis (12.5%) and it involves the functional prognosis.

The distribution of alpha-1-antitrypsin phenotypes was similar in 555 controls and 98 patients with ankylosing spondylitis: the MM phenotype (including "main" MM subtypes, i.e., M2M2 and M3M3, and "secondary" MM subtypes) was found in 86% of subjects and "rare" phenotypes combining M, F, S, and Z in 14%. Six per cent of the controls and none of the ankylosing spondylitis patients had the M4M4 phenotype (p < 0.01). Respiratory function tests were performed in 49 patients with axial ankylosing spondylitis and 30 controls matched on sex, age, body mass index, smoking status, nonsteroidal antiinflammatory drug use and distribution of "main" and "secondary" phenotypes (no subjects in this study had "rare" phenotypes); the significant reduction in chest expansion seen in the ankylosing spondylitis group (5.6 +/- 2.7 cm versus 8.7 +/- 1.2; p < 0.001) was correlated with total capacity (p < 0.04) and vital capacity (p < 0.001). Restrictive ventilatory dysfunction was seen in four ankylosing spondylitis patients versus no controls (p < 0.02). Proximal airway obstruction, pulmonary distension and decreases in the diffusing capacity for carbon monoxide were seen in similar proportions of ankylosing spondylitis patients and controls. In the ankylosing spondylitis group, evidence of pulmonary distension included increases in mean residual functional capacity and mean residual volume (105.6 +/- 21.2% versus 94.8 +/- 17.4, p < 0.03, and 100.3 +/- 22.8% versus 88.6 +/- 17.9, p < 0.04, respectively) and bullous emphysema in the lung bases in two patients (versus no controls). In the small subgroup of ankylosing spondylitis patients with lung distension or a decreased diffusing capacity for carbon monoxide, smokers and nonsmokers were evenly balanced but subjects with "secondary" phenotypes outnumbered those with "main" phenotypes (p < 0.02); in contrast, our data suggested that smoking may play the central role in the proximal airway obstruction. Our findings suggest that in addition to previously established causes of pulmonary involvement in ankylosing spondylitis a "secondary" MM phenotype (i.e., neither M2M2 nor M3M3) may be a risk factor for lung distension and impaired diffusing capacity for carbon monoxide.

The foot is among the sites most often affected in spondyloarthropathies, whose diagnostic criteria include heel pain and sausage-like swelling of the toes. Few studies have systematically analyzed foot manifestations in reactive arthritides. We retrospectively reviewed 143 patients fulfilling Amor's criteria. One hundred five patients (73%) exhibited inflammatory involvement of one (n = 47) or both feet. In 8 cases no other articular sites were affected. Heel pain was reported by 36% of patients (52/143), within the first six months in half the cases. Both heels were painful in 26 patients. Heel pain was plantar in 36 cases, posterior in 7 cases, and bipolar in 4 cases. Roentgenographic calcaneal changes were found in 54 cases overall but in only 31 of the patients with heel pain. Sixteen patients had asymptomatic calcaneitis. Seventeen patients had involvement of the transverse tarsal joint, usually with no other affected joints. Involvement of the subtalar joint was rare (6 cases). Metatarsophalangeal manifestations were found in 44% of patients (64/143) and were symmetrical in 17 cases; 17 patients had changes of the great toe suggestive of gout. Interphalangeal arthritis was seen in 22% (32/143) of cases; in half these cases the first two rays were affected and sausage-like digital swelling was seen in 28 patients (20%). Permanent roentgenological damage was uncommon.

The lumbar spine bone density (BMD) was assessed by single energy quantitative tomography in 16 young patients with non traited Klinefelter's syndrome (19 +/- 2.2 yr) and in 16 age weight- and height-matched control males. The BMD were significantly lower in the patients than in the control group (175 +/- 26 mg/cm3 K2HPO4 vs 204 +/- 26; p < 0.02). The authors found a significant correlation between BMD and plasmatic levels of testosterone and estradiol suggesting the hormonal origin of the osteopenia whereas no correlation was found with serum calcium, phosphorus or prolactin levels or hydroxy-proteinuria. Such osteopenia in young patients with Klinefelter's syndrome supports early androgenic treatment of these patients.

Thirty five patients with hypopituitarism have been studied. Nine had a mild hyponatremia (126-137 mEq/l) and five a profound hyponatremia (105-124 mEq/l). None of them had hemodilution (plasma protein, potassium were normal). Hyponatremia was present even in the absence of deficit in GH and/or TSH, and/or FSH-LH. All the pateints had a complete ACTH deficiency. There was a negative correlation between age and natremia (r = -0,39; p0.02). 2/5 patients with severe hyponatremia had mental confusion. These two patients had a complete TSH deficiency. Natremia increased with cortisone therapy in all cases but reached the normal range only in one case. Mental confusion disappeared and natremia became normal in all patients with therapy with cortisone and thyroid hormones.