Clinical features, functional status, and quality of life in patients with late-onset familial Mediterranean fever.

OBJECTIVE: This study aimed to determine the frequency of late-onset familial Mediterranean fever (FMF) and compare the clinical and genetic features, functional status, and health-related quality of life (QoL) of patients with early-onset and late-onset disease. METHODS: Patients with onset of symptoms ≤20 and >20 years of age were classified as early-onset and late-onset FMF, respectively. The clinical characteristics, MEFV gene mutations, and Pras disease severity scores were recorded. Physical disability and QoL were assessed with the health assessment questionnaire (HAQ) and short form 36 (SF-36), respectively. RESULTS: The mean age of 138 patients (104 women and 34 men) was 37.7±12.69 years. The percentages of patients with early- and late-onset FMF were 68.1% and 31.9%, respectively. Female sex, mild disease, arthritis, and sacroiliitis were more common in the late-onset group (p<0.05). The delay in diagnosis was shorter in the late-onset disease group (p<0.001). The percentage of homozygous M694V mutations was lower in late-onset disease (p=0.015). There were no differences in HAQ and SF-36 scores between early- and late-onset diseases (p>0.05). CONCLUSION: The patients with late-onset FMF had a female predominance, a shorter delay of diagnosis, more frequent arthritis and sacroiliitis, a less frequent homozygous M694V mutation, and a milder disease severity than those with early-onset disease. Physical function and health-related QoL were similar in early- and late-onset FMF groups.

Colchicine resistance: Associated factors and its effect on health-related quality of life in patients with familial Mediterranean fever.

AIM: To determine the factors associated with colchicine resistance and the effect of colchicine resistance on health-related quality of life (QoL) in patients with familial Mediterranean fever (FMF). METHODS: Demographic and clinical features, MEFV gene mutations, and Pras disease severity scores were recorded. QoL was assessed using the Short Form-36 (SF-36) and FMF-QoL scales. Colchicine resistance was defined as at least 1 attack per month for 6 months at the maximum tolerated dose of colchicine in fully compliant patients. RESULTS: The mean age of 118 patients (90 female, 28 male) with FMF was 38.4 ± 12.5 years. The percentage of colchicine-resistant patients was 19.5%. In univariable analysis, smoking (odds ratio [OR] = 2.885; 95% confidence interval [CI] = 1.104-7.539; P = 0.031), attack duration (OR = 1.955; 95% CI = 1.137-3.360; P = 0.015), presence of arthritis (OR = 5.235; 95% CI = 1.508-18.179; P = 0.009), and disease severity score (OR = 1.790; 95% CI = 1.334-2.402; P < 0.001) were associated with colchicine resistance. The FMF-QoL and subscales of SF-36 except for role emotional and vitality, were different between colchicine-resistant and non-resistant patients (P < 0.05). CONCLUSION: Smoking, attack duration, presence of arthritis, and disease severity were associated with colchicine resistance in fully compliant FMF patients. Colchicine-resistant patients had poorer health-related QoL.