Evidence was seen for pleiotropic relationships, notably correlations for chronic lymphocytic leukemia with elevated
familial risk of other B cell tumors and myeloproliferative neoplasms.
Familial Mediterranean fever is the result of mutations in the MEFV gene encoding pyrin that is a regulatory component of the intracellular inflammasome complex required for the conversion of pro-interleukin (IL)-1[beta] into active IL-1[beta].
Genetic analysis for the
familial Mediterranean fever gene (MEFV) revealed a homozygote mutation for M694V.
The majority of the cases reported were from Europe, specifically Italy, Spain, and Germany.[2],[3] Although
familial aggregation is robust in FFI, nine sporadic cases have been reported.[2] It is speculated that the annual incidence of FFI worldwide is about one out of a million people.[2] There are no gender differences among FFI patients.
Fluorescein angiographic findings in
familial exudative vitreoretinopathy Arch Ophthalmol.
Keywords:
Familial intrahepatic cholestasis, Biliary diversion, Pruritus.
In some rare cases,
familial hypertension is caused by mutations within single genes.
Histological examination of liver biopsy specimens suggested progressive
familial intrahepatic cholestasis type 3.
Familial Mediterranean fever (FMF) is an inherited autonomous inflammatory disease predominantly affecting people of Mediterranean descent, including Sephardic Jews, Turks, Armenians, and Arabs [1].
Familial Mediterranean fever (FMF) is one of the most frequent periodic febrile syndromes [1,2].
