Familial Eosinophilic Granulomatosis with Polyangiitis

• 作者: Abdurhman S. Al Arfaj Akbar Ali Khan Pathan Mohammad Al Anazi Najma Khalil Narsimha Reddy Parine
• 来源期刊: 风湿病与自身免疫疾病期刊(英文)
• 学科: 医学
• 关键词: FAMILIAL EOSINOPHILIC GRANULOMATOSIS with Polyangiitis Churg-Strauss SYNDROME ANCA Associated VASCULITIS
• 年，卷（期）: 2017,（3）
• 页码范围: 137-146
• 页数: 10页
• 分类号: R5

摘要

Eosinophilic granulomatosis with polyangiitis (EGPA) is an uncommon ANCA associated vasculitic disorder characterized by systemic necrotizing vasculitis of small vessels occurring exclusively among patients with bronchial asthma and tissue eosinophilia. Familial EGPA is extremely rare. Only two case reports have been published so far. We present a Saudi family with 3 cases of EGPA and almost three-fourths of family members affected by asthma. We explored genetic basis of EGPA in this family and found that genes were mutated in four affected siblings suggesting genetic involvement in susceptibility to EGPA.