BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. METHODS To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common MEFV ...

OBJECTIVE This study assessed the early changes in regional and global systolic and diastolic myocardial functions in patients with familial Mediterranean fever without any cardiovascular symptoms using tissue Doppler and strain and strain rate echocardiography and compared them to the results of a control group. METHODS This study has a cross-sectional and observational design. FMF patients ...

Familial Mediterranean Fever (FMF) is a fairly common inflammatory disease in communities with mediterranean origin. It is characterized with autosomal recessive, recurrent short-term episodes of fever, peritoneal, pleural, synovial membrane involvement and skin lesions. The aim of the present study was to investigate possible associations between FMF and Ala-9Val polymorphism of MnSOD and Pro1...

Results Within our cohort of 160 adult patients with FMF, we identified 15 patients (4 female and 11 male) who were treated with anakinra (n=13) or canakinumab (n=2). Twelve of 15 patients (80%) were of turkish-armenian ancestry. The median FMF severity score was 8 (range 5-14). Patients carrying two high-penetrance MEFV mutations (M694V or M680I) had a severity score of 9 (8/15=53%). Patients ...

Background and Objectives. SAA is an acute-phase reactant detected during an FMF attack or other inflammatory conditions. High SAA levels may increase the risk of amyloidosis. The aim of the study is to measure the serum amyloid A (SAA) level in a group of Egyptian children with familial Mediterranean fever (FMF) and study its various correlates, if any. Methods. The study enrolled seventy-one ...

AMAÇ: Ailevi Akdeniz Ateşi (AAA) ateş ve serozit atakları ile karakterize otozomal resesif geçişli genetik bir hastalıktır. Tanı Tel-hashomer kriterlerine göre konulur. Genetik testler tanıyı desteklemeye yönelik yardımcı yöntemlerdir. Çalışmamızın amacı testlerin fenotip, subklinik inflamasyon komplikasyonlarla ilişkisini değerlendirmektir.
 GEREÇ VE YÖNTEM: Çalışmaya 2000-2020 yılları ar...

Results 5 patients (1 male, 4 female, 2 related, 2 children and 3 adults) diagnosed with FMF based on the clinical picture and genetic analysis could be identified. Recurrent episodes of fever, abdominal and thoracic pain were present in all patients. Additional symptoms were arthralgia/ arthritis (n = 3), splenomegaly (n = 1), hepatomegaly (n = 1), lymphadenopathy (n = 1) and exanthema (n = 1)...

Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. Th...

Objective. To investigate ovarian reserves in attack-free familial Mediterranean fever (AF-FMF) patients at the reproductive age by anti-Müllerian hormone (AMH), antral follicle count (AFC), ovarian volume, and hormonal parameters. Methods. Thirty-three AF-FMF patients aging 18-45 years and 34 healthy women were enrolled and FSH, LH, E2, PRL, and AMH levels were measured in the morning blood sa...