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• TITLE: Familial Eosinophilic Granulomatosis with Polyangiitis

  AUTHORS: Abdurhman S. Al Arfaj, Mohammad Al Anazi, Najma Khalil, Akbar Ali Khan Pathan, Narsimha Reddy Parine

  KEYWORDS: Familial Eosinophilic Granulomatosis with Polyangiitis, Churg-Strauss Syndrome, ANCA Associated Vasculitis

  JOURNAL NAME: Open Journal of Rheumatology and Autoimmune Diseases, Vol.7 No.3, August 1, 2017

  ABSTRACT: 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.