Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients

Abstract

Objectives FMF is the most common periodic fever syndrome, characterized by recurrent episodes of fever and serosal inflammation accompanied with high acute phase reactants. The analysis of possible comorbidities is important to understand the impact of these conditions on clinical care and whether they share a common aetiological pathway. In this study, we aimed to evaluate the comorbidities associated with FMF patients in a large genetically diagnosed cohort. Methods We retrospectively evaluated the medical and genetic records of FMF patients who were followed up by rheumatologists in Hacettepe University for 15 years. The FMF patients who had homozygous or compound heterozygous mutations were included in the study. Comorbidities associated with FMF were divided into three groups: (i) comorbidities directly related to FMF, (ii) comorbidities due to increased innate inflammation, and (iii) comorbidities that were regarded as being incidental. Results A total of 2000 patients with a diagnosis of FMF were enrolled in the study. Among them 636 were children (31.8%) and M694V was the most common mutation in patients with associated inflammatory conditions. The frequency of AS, Iga Vasculitis (Henoch–Schönlein purpura), juvenile idiopathic arthritis, polyarteritis nodosa, multiple sclerosis and Behçet’s disease were increased in patients with FMF when compared with those in the literature. Conclusion This study represents the largest genetically confirmed cohort and compares the frequencies with existing national and international figures for each disease. The increased innate immune system inflammation seen in FMF may be considered as a susceptibility factor since it predisposes to certain inflammatory conditions.

Non‐amyloid liver involvement in familial Mediterranean fever: A systematic literature review

“…Finally, three cases of autoimmune hepatitis have been reported in FMF patients, with a prevalence of ~0.1%‐0.2% according to two different Turkish cohorts 12,44 . A fourth case leading to cirrhosis has also been described by Tweezer‐Zaks et al 9 …”

“…It is difficult to determine whether the latter stem from the disease itself, its complications or its treatment. Elevated liver enzymes may be caused by AA amyloidosis, NAFLD or primary sclerosing cholangitis associated with inflammatory bowel disease, which develops at an increased rate in FMF patients 12–14 . Chronic colchicine intake has also been suspected to cause liver injury 5 .…”

The coexistence of familial Mediterranean fever (FMF) in systemic lupus erythematosus (SLE) patients – A cross sectional study

“…An explanation for the suggested comorbidity may stem from the impact of the MEFV mutation, which is associated with FMF. 17 The presence of the MEFV mutation in SLE patients may modify the phenotype of the disease 18 by enhancing inflammatory episodes and attenuating renal manifestations. 6 For example, the frequency of variants in the MEFV mutation (M694V, M680I, V726A and E148Q) in Turkish Juvenile SLE and adults SLE patients was 22.7% 19 and 15% 20 respectively.…”

Ergebnisse der systematischen Literatursuche als Grundlage für die „evidenzbasierten Therapieempfehlungen für FMF-Patienten mit unzureichendem Ansprechen bzw. Unverträglichkeit auf Kolchizin“ der Gesellschaft für Kinder- und Jugendrheumatologie und der Deutschen Gesellschaft für Rheumatologie

“…Morbus Behçet wieder thematisiert bzw. mit Daten gestützt wurden [133]. Die in diesem Artikel enthaltenen Bilder und sonstiges Drittmaterial unterliegen ebenfalls der genannten Creative Commons Lizenz, sofern sich aus der Abbildungslegende nichts anderes ergibt.…”