Familial Mediterranean fever

Abstract

Familial Mediterranean fever (FMF) is the most frequent periodic syndrome characterized by recurrent attacks of polyserositis. Fever, abdominal pain, chest pain, and arthritis/arthralgia are the leading symptoms. It is an autosomal recessive disorder, which primarily affects Jewish, Armenian, Turkish, and Arab populations. The FMF gene ( MEFV) has recently been cloned to chromosome 16p, which encodes pyrin. Genotype-phenotype correlation is not well established. Amyloidosis is the most severe complication of FMF. The SAA1-alpha/alpha genotype was associated with an increased risk of amyloidosis. Colchicine treatment not only decreases the frequency and severity of attacks, but also prevents amyloidosis. Certain vasculitides, namely Henoch-Schonlein purpura and polyarteritis nodosa, are more frequent among FMF patients.

Familial Mediterranean Fever

“…It is believed that the protein called serum amyloid A (SAA) is produced by the liver and is the degradation product of an acute-phase reactant (APR) that is formed during infection, malignancy, tissue damage, FMF attacks, and other inflammatory conditions (21,22). The first clinical sign associated with amyloidosis in FMF is proteinuria (13,21).…”

“…Owing to the widespread use of colchicine treatment, amyloidosis occurs in only a small number of patients with FMF. Studies revealed that ethnicity, heredity, and environmental conditions are the factors that affect the risk of getting amyloidosis (9,(21)(22)(23)(24). Amyloid slowly accumulates in various organs and tissues and its accumulation in the kidney is the most obvious form of organ dysfunction (13).…”

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

“…3,4 The five most common mutations in individuals affected by FMF are M694V, M680I, M694I, E148Q, and E726A. 3,15,19 The pathophysiology of FMF has yet to be fully elucidated, but several studies have suggested that pyrin plays a role in modulating production of interleukin 1-beta (IL-1β), a major proinflammatory cytokine. 16,20,21 Pyrin, alongside cryopyrin, ASC, and caspase-1, is one of the constituents of a protein complex known as the inflammasome.…”

“…29 Recurrent pleurisy as a cause of chest pain is reported in 39% of patients, whereas pericarditis is rare (1 to 2.4% of cases). 27,30 The most common and specific cutaneous manifestation of FMF is erysipelas-like erythema, which occurs in 7 to 40% of cases 16,19 and is characterized by erythematous, vesicular, and bullous lesions mostly affecting the lower extremities. 16 These lesions may persist for 24 to 48 hours, and the attending signs of inflammation are often misdiagnosed as cellulitis, prompting antibiotic therapy.…”

“…16 These lesions may persist for 24 to 48 hours, and the attending signs of inflammation are often misdiagnosed as cellulitis, prompting antibiotic therapy. 16,19 The diagnosis of FMF is based on clinical criteria, family history, exclusion of other periodic fever syndromes, and a clinical response to colchicine. In 1997, Livneh et al…”