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The association of Familial Mediterranean Fever and cryptogenic cirrhosis
Pediatric Rheumatology volume 6, Article number: P205 (2008)
Familial Mediaterranian Fever (FMF) is an ethnically related genetic disease, characterized by spontaneously resolving episodes of fever and pain. Amyloidosis of the amyloid A type is the most important manifestation of FMF, affecting many organs, including the kidneys, adrenal glands, intestines, spleen, thyroid, heart, lungs and liver. There is an increasing concern about the association of non-amyloid chronic liver disease and FMF.
We present a 9 year-old male patient from consangious parents who had episodes of recurrent diarrhea, fever, vomiting and abdominal pain since 6 month-old. He was found to have hepatosplenomegaly on his physical examination. Liver biopsy revealed the diagnosis of cryptogenic cirrhosis without any deposition of amyloid. He was also found to have homozygous M694V gene mutation and colchicine was started while he was 7 year-old.
The relation of cryptogenic cirrhosis and FMF is still obscure. Non-amyloid liver disease could be found in patients with FMF as a coincidental finding or as an association and patients with cryptogenic cirrhosis should be investigated for the presence of FMF.
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Baskin, E., Ozcay, F., Bayrakci, U. et al. The association of Familial Mediterranean Fever and cryptogenic cirrhosis. Pediatr Rheumatol 6, P205 (2008) doi:10.1186/1546-0096-6-S1-P205
- Liver Disease
- Gene Mutation
- Genetic Disease