gms | German Medical Science

Introduction: Familial Mediterranean Fever (FMF) is the most common hereditary periodic fever syndrome. Recurrent fever, arthritis, serositis and cutaneous lesions characterize the clinical course, and its complications are related to amyloidosis. Besides the classic management with colchicine, new treatment options with biologic agents have arisen in the last years. Aim of this study was to evaluate the clinical features, severe complications such as amyloidosis and/or renal manifestations and the use of synthetic or biologic DMARD in a cohort of FMF adult patients in a single center.

Methods: In this cross-sectional descriptive study, we evaluated patients with FMF in the frame of a specific autoinflammation consultation, according to the Eurofever/PRINTO classification criteria who had been admitted between December 2009 and December 2019 to our outpatient clinic. The data was obtained through the review of medical records.

Results: Fifty-three adults with FMF were included, 29 (54.7%) were male. In our cohort, the mean (SD) age was 37.3 (11.7). 31 (58.5%) were currently under biologic treatment due to colchicine resistant recurrent attacks or colchicine related side effects or intolerance. Twenty-six patients were treated with an anti-IL-1, sixteen (30.2%) with Anakinra (anti-IL-1R, approved for FMF since 4-2020) and 10 (18.9%) with Canakinumab (anti-IL-1, approved for periodic fever syndrom since 2016). Four (7.5%) with an anti-TNF and one patient (1.9%) with an anti-IL-6R (off-label-use). The use of the biologic agents was continuous, except for 5 patients who were treated with Anakinra on demand for acute attacks. Concomitant use of colchicine was seen in 24 (77.4%) of the patients receiving bDMARD. No current use of synthetic DMARDs was registered. Out of seven patients with histologic evidence of amyloidosis (developed before initiation of bDMARDs), 85.7% (n=6) were treated with biologics; among those, 3 of the 4 patients who underwent a renal transplant, and the 2 patients were on hemodialysis. By the last visit available, all patients were clinically stable; 36% (n=9) achieved the target of serum amyloid A below 10 mg/L according to EULAR recommendations1, and an additional 24% (n=6) were on normal levels for the local laboratory. The MEFV mutations were found in 79,2% (n=42) of patients, 62,3% (n=33) were heterozygous and 22,6% (n=12) were homozygous. Table 1 [Tab. 1] clinical features and renal manifestations.

Conclusion: On our cohort, more than half of the patients are currently under biologic treatment, including the majority of the most severe cases, with amyloidosis complications. The preferred target for second-line biologic treatment was IL-1, as expected, and the use of anti-TNF was only limited to patients with comorbid spondylarthritis. The use of anti-IL6 was anectodal in our cohort.

Disclosures: Made possible by support from Novartis