A rare cause of ascites: Familial Mediterranean fever.
Familial Mediterranean fever is an autosomal recessive disorder characterized by sporadic, paroxysmal attacks of fever and serosal inflammation. In Familial Mediterranean fever, peritoneal effusion during abdominal attacks is usually mild, is not detected by clinical evaluation, and disappears during clinical remission. Chronic ascites has rarely been described in patients with Familial Mediterranean fever. Genetic analysis is highly specific and sensitive for diagnosis of Familial Mediterranean fever. All of the four cases discussed in our study had no benign or malignant pathology that could explain the ascites. They had suffered from repetitive periods of fever and ascites since childhood. Genetic analysis of these four cases revealed that one was M694V/M694V homozygote, one was M694V/? heterozygote, and the other two were M694V/V726A compound heterozygote. Ascites regressed with colchicine therapy. Since Familial Mediterranean fever is common our country, it should be kept in mind in the differential diagnosis in patients with ascites of unknown etiology.
Bektaş
Mehmet
M
Department of Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey. mbektas70@hotmail.com
Soykan
Irfan
I
Gören
Deniz
D
Altan
Mehmet
M
Korkut
Esin
E
Cetinkaya
Hülya
H
Ozden
Ali
A
D000293:Adolescent; D000328:Adult; D001201:Ascites / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D003078:Colchicine / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005260:Female; D005808:Genes, Recessive; D005820:Genetic Testing; D005838:Genotype; D006074:Gout Suppressants / Q000627:therapeutic use; D006579:Heterozygote; D006720:Homozygote; D006801:Humans
D006074:Gout Suppressants; D003078:Colchicine