Abstract Number: PB0569
Meeting: ISTH 2021 Congress
Background: Familial Mediterranean fever (FMF) is a heterogenous autoinflammatory genetic disorder characterized by periodic fever, peritonitis, and synovitis, which can be associated with several disorders including autoimmune or systemic vasculitis. However, FMF in patients with hemophilia has not been reported previously. Both disorders result in arthritis.
Aims: We aim to investigate the frequency and clinical characteristics of FMF in patients with severe hemophilia.
Methods: This cross-sectional study included 28 patients with severe hemophilia (24 hemophilia A and 4 hemophilia B). Clinical and laboratory data were recorded in patients with hemophilia. All cohorts were genetically tested for FMF by Pyrosequencing™. The diagnosis of FMF is based on Tel-Hashomer clinical criteria and/or genetic results. This study was approved by the Institutional Review Board.
Results: Of the 28 individuals, seven (25%) were diagnosed with genetically confirmed FMF. Five different heterozygous mutations including M694V (n=2), E148Q (n=2), V726A(n=1), P369S (n=1), E148Q/K695R (n=1) were identified in these patients. The median ages of them were 18 years (2-42 years). Seven patients with severe hemophilia were receiving prophylaxis. Among them, four were symptomatic for FMF cases. The first case was a 10-year-old boy with hemophilia B with recurrent fever, abdominal pain, and arthritis who was diagnosed with FMF according to the Tel-Hashomer criteria and positive M694V heterozygous mutation and started colchicine. His symptoms recovered. The remaining three older cases with hemophilia A were positive family history for FMF. They had recurrent arthritis without fever. No bleeding was detected in their joint ultrasound during several attacks. The number of joint bleedings in mutation-positive patients with FMF was significantly lower than in mutation-negative patients with FMF (p<0.05).
Conclusions: Our data indicate that screening for FMF may be useful in patients with severe hemophilia who develop arthritis without prominent bleeding and have a positive family history in many Mediterranean countries, including Turkey.
To cite this abstract in AMA style:Kirkiz S, KAYA Z, Gönen S, Koçak Ü. The Role of Familial Mediterranean Fever in Hemophilia: Should We Tested? [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/the-role-of-familial-mediterranean-fever-in-hemophilia-should-we-tested/. Accessed November 28, 2023.
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