Arteritis, Familial Granulomatous, With Juvenile Polyarthritis

Clinical Features

Rotenstein et al. (1982) described a family in which 4 females in 3 successive generations shared the clinical triad of fever, hypertension, and juvenile polyarthritis, along with the pathologic feature of noncaseating granulomas in vascular and extravascular distribution. The proband was a 5-year-old white girl who at age 8 months developed fever and a persistent macular erythematous rash. At 10 months nodules were noted on her wrists. At 18 months she had fever and symmetrical swelling, warmth and redness of hands, knees, and ankles, and pericardial effusion was noted. At age 4.5 years she had spiking fever, headache, and a seizure, with blood pressure of 200-140 mm Hg, bilateral iritis, papilledema, and pericardial friction rub. Abdominal aortograms showed beading of the splenic, renal and iliac arteries, proximal stenosis and poststenotic dilatation, and intrarenal arterial stenoses. Skin biopsy showed noncaseating granulomatous inflammation. After 1 year of therapy with prednisone and cyclophosphamide, aortograms showed dramatic improvement. In her mother, the diagnosis of rheumatoid arthritis with features of Still disease was made at age 8 years; in her twenties, she had 5 episodes of unexplained fever. At age 28, she developed fever, jaundice, and elevated alkaline phosphatase; liver biopsy showed noncaseating granulomas. At age 35 she had a pleural effusion. The proband's maternal grandmother, aged 62, had juvenile-onset polyarthritis, unexplained fever only during childhood, recent chronic iritis and noncaseating granulomas on conjunctival biopsy. The proband's maternal aunt, who died at age 24, had rheumatoid arthritis with features of Still disease beginning at age 8 years. Throughout her life, she had recurrent episodes of unexplained fever. In a final hospitalization she had seizures and severe hypertension. Autopsy showed systemic noncaseating granulomas.

Di Liberti (1982) suggested that the patients reported by Rotenstein et al. (1982) had the same disorder as that in a family he and his associates presented at the 1974 Birth Defects Conference in Newport Beach, California. Five persons in 2 generations had arthritis beginning in early childhood and initially affecting the hands, wrists and ankles. The dorsal tendon sheaths of the hands and feet were particularly involved. By late childhood the swelling had diminished, but flexion contractures of the fingers and elbows were evident. Periarticular osteoporosis was also present. One child had iritis with prominent synechiae. He died suddenly at play, and at autopsy had granulomatous arteritis of the aorta, coronary arteries, kidneys, liver and other organs. The coronary arteries were almost totally occluded. Although some features suggested childhood sarcoidosis, the conspicuous arteritis is probably a differentiating feature.

Malleson et al. (1981) reported a Mexican-American family in which the mother and a daughter and 3 sons had camptodactyly and arthritis. Another son had arthritis but no camptodactyly. One of the affected sons died at age 4.5 years and was shown to have granulomatous arteritis which affected the aorta, pericardium, myocardium, and coronary arteries. He had also had chronic bilateral iridocyclitis. Some of these features suggest Jabs syndrome (186580).