OBJECTIVE This study aimed to investigate the frequency in which familial Mediterranean fever (FMF) coexists with other diseases and determine whether Mediterranean fever (MEFV) gene mutations are involved in such coexistence. MATERIAL AND METHODS In total, 142 consecutive patients with FMF investigated for MEFV mutation were enrolled in this study [Female: 87; Male: 55, mean age 32±12 years ...

Introduction. FMF (Familial Mediterranean Fever) is characterized by recurrent attacks of fever and articular pain. Enthesitis is the hallmark of pain in spondyloarthropathy. Literature suggests association of M694V mutation and enthesitis. We report a case of a 16-year-old boy with enthesitis and FMF. Case Presentation. A 16-year-old boy of Turkish origin with a history of FMF presented with l...

Methods 113 caucasian patients carrying MEFV mutations (46 with mutations in two alleles, 67 heterozygous) and 205 genetically negative patients for MEFV, TNFSF1A and MEFV (70% with a PFAPA phenotype) were analyzed. The following groups were considerd: patients with: i) 2 high penetrance mutations (M694V, M694I, M680I), ii) 1 high, 1 low penetrance mutation, iii) 2 low penetrance mutations, iv)...

Methods 86 patients who underwent cardiac surgery were studied, 45 of whom developed PPS (study group) and 41 have not (control group). Demographic data (gender, age, region of residence, ethnic origin) and type of surgery were collected. The severity of PPS was evaluated, based on a predefined scale. Genetic analysis determining carriage of one of the three most common MEFV gene mutations (M69...

Objectives The potential risk factors of amyloidosis are known as ethnic origin (Jewish, Armenian, Turkish, and North African origin), non-usage of colchicines, and family history. Various investigators suggest that M694V mutation, especially homozygote pattern, is a risk factor for amyloidosis. In literatures reported from Turkey, it is stated that there is only a limited association. In this ...

Introduction Systemic reactive (AA) amyloidosis represents the most important complication within TNF receptor associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and other autoinflammatory syndromes, progressively leading to endstage renal failure. The homozygous condition of the serum amyloid A (SAA) variant SAA1.1 is significantly associated with the occurrence of AA amy...

Results Compared with the control group, more patients, homozygous for the M694 mutation, suffered from a severe disease (p=0.001), had higher frequency of attacks before and during colchicine treatment (p=0.0001 and 0.0007, respectively), had more related diseases (p=0.0373) and needed higher dose of colchicine to control their disease (p=0.0001). Most other features tested (Table 1) appeared ...

Introduction Familial Mediterranean fever (FMF) is an autosomalrecessive disorder characterized by recurrent attacks of fever and serositis common in eastern Mediterranean population. Over 160 mutations have been identified in MEFV gene responsible for FMF. The most common mutations in MEFV gene are E148Q, M694I, M694V, V726A and M680I. The distribution pattern of MEFV mutation along the Medite...

Results We identified 446 patients divided as such: 37 in the earlyonset group (A) and 409 in the other group (B). A statistically significant difference was noted between the 2 groups (A vs B) for the ethnic origin (Sefaradic Jews p < 0.001), male preponderance (p < 0.015), number of crises/month (p < 0.015), response to colchicine treatment, and type of mutations in codon 694 and 680 (for M69...

Objective We aimed to evaluate frequency and distribution MEFV gene mutation variants in patients with presumptive diagnosis of Familial Mediterranean Fever (FMF). Material Methods Patients who had undergone FMF targeted analysis between September 2018 2019 were retrospectively analyzed. Twenty-six distinct studied. Demographic clinical data study participants collected from patient charts hosp...