BMJ case reports · 2014
Familial eosinophilic granulomatosis with polyangiitis in a mother and daughter.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Harmanci Koray, Anil Hulya, Kocak Abdulkadir, Dinleyici Ener Cagri
Аннотация
A 17-year-old girl was admitted to our unit with weight loss, dyspnoea, arthralgia and sinusitis. Her medical history was noteworthy for bronchial asthma and she required systemic steroid therapy. Her mother had a history of eosinophilic granulomatosis with polyangiitis (EGPA). Laboratory tests revealed excessive eosinophilia and elevated erythrocyte sedimentation. The assay for peripheral antineutrophil cytoplasmic antibodies was negative. Histopathological examination of lung biopsy revealed EGPA. The patient was treated with methylpredinosolone; her eosinophil count normalised and she began to improve clinically and radiographically. There is no genetic factor to influence susceptibility to this disease. To the best of our knowledge, this is the second report of familial EGPA disease in the literature, with a mother and daughter both being affected. EGPA disease should be kept in mind in a patient with uncontrolled asthma and eosinophilia with a positive family history for EGPA.