IllnessFamilial mediterranean fever

NGS +

Sanger

Familial Mediterranean fever (FMF) is characterized by recurrent painful inflammation in the abdomen, chest and/or joints. Prodromal symptoms include uncomfortable sensations in the areas of later-onset inflammation. FMF usually begins in childhood or teenage years, rarely later. Without treatment, renal amyloidosis in particular may occur. FMF is almost always inherited autosomal recessively, rarely FMF seems to be inherited in autosomal dominant manner, which in many cases is rather to be understood as pseudodominant. Various so-called modifying genes exist. The DNA diagnostic yield is 75-90%, so that inconspicuous genetic findings do not mean that the clinical suspected diagnosis is excluded. If the clinical picture is suggestive of FMF, but DNA sequence analysis is unremarkable, six months of colchicine therapy may lead to the relief of attacks, which may recur after discontinuation, respectively.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1227/

• Alias: Benign paroxysmal peritonitis
• Alias: Benign recurrent polyserositis
• Alias: FMF; familial mediterranean fever, AD/AR (MEFV)
• Alias: Familial paroxysmal polyserositis
• Alias: Periodic disease
• Alias: Polyserositis, AR
• Alias: Recurrent polyserositis, familial paroxysmal