Health-related Quality of Life, Electrocardiographic and Holter Findings in Children With Familial Mediterranean Fever

Familial Mediterranean fever (FMF) also known as 'periodic peritonitis,' 'familial paroxysmal polyserositis,' 'periodic disease,' 'Siegal-Cattan-Mamou disease,' 'Wolff periodic disease' or 'Reimann syndrome' is an autosomal recessive autoinflammatory disease that causes recurrent fevers and serositis. FMF is caused by a mutation in the Mediterranean fever (MEFV) gene located on the short arm of chromosome 16. This gene produces a protein called pyrin which binds to an apoptosis-associated speck-like protein (ASC) and caspase-1 to inhibit activation of IL-1beta (interleukin) and hence, the inflammatory pathways. Mutation of MEFV genes disrupts pyrin protein and its function, which leads to activation of IL-1beta and then the entire inflammatory pathway. FMF affects primarily the populations located on the Mediterranean basin mainly Armenians, Turks, Arabs and non-Ashkenazi Jews. However, some new cases have been described in European countries. Turkey is presumed the country with the highest number of FMF patients worldwide, with a prevalence ranging from 1:400 to 1:1000. The exact prevalence of FMF among Arab countries is unknown. FMF manifests as recurrent attacks of fever and serositis causing severe chest, abdominal, or joint pain. Erysipelas like lesions, scrotal swelling and myalgia can also occur. Patients feel normal between attacks. The severity of the attacks may vary each time, and the time between two attacks could be anywhere from one week to even several years. Some patients reported particular triggers with the appearance of attacks like severe stress, cold exposure, heavy exercise, recent infection, recent surgery, and menstruation. The first attack frequently occurs in childhood, and it usually begins before the age of 20 years. All attacks develop over 2 to 4 hours and last anywhere from 6 hours to 4 days. Colchicine has been the treatment of choice for this disease since 1972. Amyloidosis is the most common complication of FMF, determining wheth