Familial Mediterranean Fever: Clinical overview

ISBN-13: 9786139956050 / Angielski / Miękka / 2018 / 60 str.

Hala El-Bassyouni; Manar K.Kassem; Yara Y. El-Bishbishy

Opis

Familial Mediterranean Fever (FMF) (OMIM: 249100) is an auto-inflammatory autosomal recessive genetic disease associated with missense and nonsense mutations in the MEFV gene, which is located on the short arm of chromosome 16. It "usually occurs in people of Mediterranean origin including Sephardic Jews, Mizrahi Jews, Armenians, Azerbaijanis, Arabs, Greeks, Turks, and Italians although all ethnic groups are susceptible to FMF as it had been reported in the united states and Japan. The prominent features of FMF include recurrent episodes of peritonitis, pleuritis, and arthritis, usually with accompanying fever. Amyloidosis (the abnormal deposition of a particular protein, called amyloid, in various tissues of the body) is a potentially serious complication and can develop without overt attacks of FMF. The kidney is a prime target for the amyloid. In some cases, it is unknown why FMF flares start, but the following have been identified as common triggers: stress, cold, Infections, some medications and the menstrual cycle. Colchicine is extremely effective in preventing attacks of FMF and preventing the development of amyloidosis.

O autorze

El-Bassyouni, Hala
Hala El Bassyouni is Professor of Clinical Genetics,National Research Centre, Egypt.She is a member of the European Society of Human Genetics, published 94 articles in national and international journals; participated in 14 projects and supervised the thesis submitted for Ph.D and master degree of 15 students and reviewer of International journals.