<p>Coexisting Diseases in Patients with Familial Mediterranean Fever</p>

Abstract

Background and Aims: Familial Mediterranean fever (FMF) is a prototype of autoinflammatory disease and mainly associated with MEFV gene mutations. This single-center study as an experience represents FMF-coexisting disease in the FMF registration database. Methods: Four hundred patients who had FMF based on clinical criteria (Tel-Hashomer) and/or MEFV mutations enrolled the study. Twelve most common MEFV mutations (P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) were analyzed if needed by the reverse hybridization assay. Any coexisted disease had been confirmed by a related subspecialist. All data were analyzed by a simple analytical method. Results: Fifty-seven (14%) patients had associated disease, 32 patients were male and 24 patients were under 10 years old. They included 92 MEFV variant alleles and only in five patients there were not any mutations. The most common variant alleles were M694V (36%), E148Q (22%), V726A (17%), M680I (1%) and M694I (0.07%) respectively. Rheumatologic disorders were the most common coexisting disease, then followed by gastrointestinal and neurological disorders. Some rare diseases such as TTP, growth hormone deficiency, multiple sclerosis, idiopathic ascites, Leiden factor V deficiency and Felty syndrome have been detected. Homozygote mutations of (M694V-M694V) were associated with idiopathic ascites, orchitis and pericarditis. Conclusion: Coexisting disease in patients with FMF is presented with positive MEFV gene mutations particularly with these five common variant alleles: M694V, E148Q, V726A, M680I, and M694I. The commonly associated diseases are rheumatologic, gastrointestinal and CNS disorders.

Relationship Between Familial Mediterranean Fever and Other Rheumatic Diseases: Coincidence or Coexistence?

“…Turk J Int Med 2022;4(1): [25][26][27][28][29][30][31][32][33][34][35][36] Familial Mediterranean Fever and Rheumatic Diseases…”

“…Patients with late-onset have lower rates of mutation in exon 2 and exon 10 of the MEFV gene. They display higher rates of musculoskeletal system Turk J Int Med 2022;4(1): [25][26][27][28][29][30][31][32][33][34][35][36] Tezcan, et al Data were described as number (n) and percentage (%). p-value1 shows the comparison of SPA, vasculitis, and STD groups (gout and JIA were excluded from statistical analysis due to the small sample size) and was calculated using Fisher-Freeman-Halton exact test.…”

“…It is estimated that high IL-1 levels in FMF patients may lead to Th17 activation and direct stimulation of keratinocytes. The level Turk J Int Med 2022;4(1): [25][26][27][28][29][30][31][32][33][34][35][36] Familial Mediterranean Fever and Rheumatic Diseases of IL-1 produced by active T lymphocytes is high in psoriasis lesions. 21 FMF and IBD have many similar clinical and biological properties and may accompany FMF.…”

“…The role played by environmental factors, especially streptococcal infections, seems to be important. 24,25 Studies report the increased prevalence of HSP or PAN in both pediatric and adult FMF patients was published. The prevalence of HSP in FMF patients ranged from 2.7% and 7.2% in four studies in Turkey and Israel.…”

A Rare Case of a Severe Course of Systemic Onset of Juvenile Idiopathic Arthritis Associated with MEFV Gene Mutations in a 12-year-old Girl

“…The diagnosis of FMF is based on the clinical criteria of Tel Hashomer. These criteria contain three major (recurrent febrile episodes accompanied by serositis; amyloidosis of AA type; favorable response to colchicine) and three minor criteria (FMF in first-degree relatives; erysipelas-like erythema; recurrent febrile episodes); for diagnosis of FMF, it needs two major or one major plus two minor criteria [18]. There are no specific laboratory tests to diagnose FMF.…”