Association between serum transaminase elevations and clinical course in patients with familial Mediterranean fever

To evaluate the clinical features, disease course, genetics, and treatment responses of familial Mediterranean fever (FMF) patients with elevated serum transaminase levels.

The charts of the FMF patients with at least one year of follow-up were retrospectively investigated for the presence of elevated serum transaminase levels. The genetic and clinical findings and disease course of identified patients were compared with a group of FMF patients with no transaminase elevations.

A retrospective chart review included 780 registered patients diagnosed with FMF. Forty-two patients (5.3%) were excluded because of the insufficient follow-up duration, associated viral hepatitis, alcoholic hepatitis, and biopsy-proven liver amyloidosis. A total of 83 patients (11.2%) with elevated serum transaminase levels were identified, and their findings were compared with a control group of 655 patients with no transaminase elevation. FMF attacks began at a significantly older age (17.0±12.9 vs. 12.4±9.0 years, p=0.01), and the percentage of patients experiencing more frequent (≥ 3 attacks/month) attacks was higher (35.4% vs. 24.1%, p=0.01) in the elevated transaminase group. No significant differences were observed between the two groups regarding age at diagnosis, delay in diagnosis, presenting features of FMF, CRP levels at baseline and during attacks, frequency of amyloidosis, and the colchicine dose, as well as the frequency of patients requiring anti-IL-1 treatments. The frequency of MEFV gene exon 10 mutations and p.M694V homozygosity did not differ significantly between the groups. Hepatosteatosis was observed by abdominal ultrasonography in 46.7% of the patients with elevated liver enzymes. A follow-up study after 6 years revealed that transaminase levels remained elevated in 21 out of 49 patients (42.9%), and one patient developed liver cirrhosis.

Elevated serum transaminase levels can be detected in approximately 11.2% of FMF patients, and this finding is not associated with colchicine use or manifestations of FMF. Ultrasonographic evidence of hepatosteatosis was observed in nearly half of the patients. Follow-up analysis showed that serum transaminase elevations may persist in 43% of the patients, which suggests further studies to determine whether this abnormality is a feature of FMF or not.