A rare cause of massive ascites: familial Mediterranean fever.
Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent fever and peritoneal and pleural inflammation. It is an inherited disorder commonly found in Armenians, Turks, Arabs, Balkans, and Jews originating from North African countries. A small amount of peritoneal fluid collection can be observed during peritoneal attacks in patients with Familial Mediterranean fever, but chronic ascites has been described rarely in these patients. A 42-year-old female patient was admitted to our clinic in June 2010 with fever, severe abdominal pain and abdominal distention that had continued for one month. There was no family history of periodic fevers or abdominal pain. We could not find any cause for ascites, including tuberculosis. A diagnosis of Familial Mediterranean fever was suspected based on the clinical findings and her family history. She was screened for mutations causing Familial Mediterranean fever, and when found to be homozygous for M694V, treatment with colchicine was initiated. After treatment, the amount of ascites decreased, and relief of symptoms was confirmed during a follow-up. In conclusion, because Familial Mediterranean fever is common in our country, it should be considered in the differential diagnosis of patients with ascites of unknown etiology in populations where hereditary inflammatory disease is endemic.
Department of Internal Medicine , Yüzüncü Yıl University, Medical Faculty, 65000 Van, Turkey. m.aslan301@mynet.com
Mehmet
M
Aslan
Güner
G
Demir
Ramazan
R
Esen
Ahmet Cumhur
AC
Dülger
Hüseyin
H
Beğenik
Yılmaz
Y
Çelik
Mehmet Emin
ME
Küçükoğlu
Kadir
K
Bahar
D000328:Adult; D001201:Ascites / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D003078:Colchicine / Q000008:administration & dosage; D003598:Cytoskeletal Proteins / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005260:Female; D006074:Gout Suppressants / Q000008:administration & dosage; D006720:Homozygote; D006801:Humans; D009154:Mutation; D000071198:Pyrin; D014463:Ultrasonography
D003598:Cytoskeletal Proteins; D006074:Gout Suppressants; C000604192:MEFV protein, human; D000071198:Pyrin; D003078:Colchicine