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We conducted a single-center retrospective study to compare the characteristics of Takayasu arteritis (TA) among white, North African, and black patients in a French tertiary care center (Hospital Pitié-Salpêtrière, Paris). Eighty-two patients were studied (82.9% female) during a median follow-up of 5.1 years (range, 1 mo to 30 yr). Among these 82 patients, 39 (47.6%) were white, 20 (24.4%) were North African, and 20 (24.4%) were black patients. Median age at diagnosis was 39.3 years (range, 14-70 yr) in white patients vs. 28.4 years (range, 12-54 yr) in North African (p = 0.02), and 28.0 years (range, 13-60 yr) in black patients (p = 0.08). Patients aged >40 years at TA onset were more frequently white than non-white (40.0% vs. 18.6%, p = 0.03). North African patients had more frequent occurrence of ischemic stroke (p = 0.03) and poorer survival (p = 0.01) than white patients. Type V of the Hata classification was the most frequent type among white (38.5%), North African (65.0%), and black patients (40.0%). Corticosteroids were used in 96.1% of patients. Fifty-three percent of white and North African patients, and 44% of black patients required a second line of immunosuppressive treatment (p = 0.60). Vascular surgical procedures were respectively performed in 46.1%, 50.0%, and 55.0% of white, North African, and black patients, p = 0.81. The 5-year and 10-year survival rates were 100% and 95.0%, respectively, in white patients; 67.4% at both 5 years and 10 years in North African patients; and 100% at both 5 years and 10 years in black patients. This study is one of the first direct comparisons of TA profiles among patients of distinct ethnic backgrounds. Our data support the idea that late-onset TA or an overlap between TA and large-vessel giant cell arteritis may be observed in white patients. North African patients have a higher occurrence of ischemic stroke and poorer survival than white patients.

Objective: To characterize the frequency, clinical signs, and genotypic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a series of 394 patients of various ethnic origins who have recurrent inflammatory syndromes., Methods: Sequencing of the coding region of the TNFRSF1A gene was performed in 128 patients in whom there was a high suspicion of TRAPS, and denatured high-performance liquid chromatography was used to systematically screen for TNFRSF1A in 266 patients with recurrent inflammatory syndrome and no or only 1 Mediterranean fever gene (MEFV) mutation., Results: TNFRSF1A mutations were found in 28 (7.1%) of 394 unrelated patients. Nine (32%) of the 28 patients had a family history of recurrent inflammatory syndromes. In 13 patients, the length of the attack of inflammation was fewer than 5 days. Three of the mutations (Y20H, L67P, and C96Y) were novel. Two mutations, R92Q and (mainly) P46L, found in 12 and 10 patients, respectively, had lower penetrance compared with other mutations. TNFRSF1A mutations were found in patients of various ethnic origins, including those at risk for familial Mediterranean fever (FMF): Armenians, Sephardic Jews, and especially Arabs from Maghreb. Only 3 (10.7%) of the 28 patients had amyloidosis., Conclusion: TRAPS is an underdiagnosed cause of recurrent inflammatory syndrome. Its presence in the population of persons of Mediterranean ancestry and the short duration of the attacks of inflammation can lead to a fallacious diagnosis of FMF. Because an accurate diagnosis in patients with recurrent inflammatory syndromes is crucial for proper clinical management and treatment, genetic screening for TNFRSF1A is warranted.