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.