| Literature DB >> 25332561 |
Muzaffer Keklik1, Ali Unal1, Serdar Sivgin1, Olgun Kontas2, Eray Eroglu3, Semih Yilmaz3, Leylagul Kaynar1, Bulent Eser1, Mustafa Cetin1.
Abstract
Familial Mediterranean fever (FMF) is a genetic disease with autosomal inheritance characterized by recurrent fever, abdominal pain, and serositis attacks. It is relatively common in the races and ethnical groups around Mediterranean Sea (Sephardic Jews, Armenians, Turks and Arabians). Hereditary elliptocytosis (HE) is common genetic defect of the red blood cell membrane skeleton. Spectrin mutations are the predominant causes of HE. Hypereosinophilia is defined as a number of eosinophil granulocytes equal or greater than 0.5 × 10(9)/L of circulating blood. The main causes are allergies and parasitic infections. This case report describes a Turkish female HE patient who presented with FMF and hypereosinophilia. Genetic analysis revealed heterozygous mutation in exon 10 of the MEFV gene (V726A). The patient was successfully treated with colchicine and steroid treatment at 3-month follow-up. To the best of our knowledge, this is the first report of association between FMF, HE, and hypereosinophilia.Entities:
Keywords: Familial Mediterranean fever; Hereditary elliptocytosis; Hypereosinophilia
Year: 2013 PMID: 25332561 PMCID: PMC4192255 DOI: 10.1007/s12288-013-0296-6
Source DB: PubMed Journal: Indian J Hematol Blood Transfus ISSN: 0971-4502 Impact factor: 0.900