迟发性家族性地中海热患者的临床特征、功能状态和生活质量

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL
Didem Erdem Gursoy, Halise Hande Gezer, Nuran Oz, Aygun Ozer, Sevtap Acer Kasman, Mehmet Tuncay Duruoz
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引用次数: 0

摘要

目的:了解晚发性家族性地中海热(FMF)的发病频率,比较早发性和晚发性地中海热患者的临床和遗传特征、功能状态和健康相关生活质量(QoL)。方法:将出现症状≤20岁和>20岁的患者分别分为早发性和晚发性FMF。记录患者的临床特征、MEFV基因突变及Pras疾病严重程度评分。采用健康评估问卷(HAQ)和SF-36 (SF-36)分别对身体残疾和生活质量进行评估。结果:138例患者(女104例,男34例)平均年龄37.7±12.69岁。早发性FMF和晚发性FMF的比例分别为68.1%和31.9%。女性、轻症、关节炎、骶髂炎在晚发组中更为常见(p0.05)。结论:迟发性FMF患者以女性为主,诊断延迟较短,关节炎和骶髂炎多发,M694V纯合子突变发生率较低,病情严重程度较早发性患者轻。早发性FMF组和晚发性FMF组的身体功能和健康相关的生活质量相似。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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Northern Clinics of Istanbul
Northern Clinics of Istanbul MEDICINE, GENERAL & INTERNAL-
CiteScore
0.40
自引率
0.00%
发文量
48
审稿时长
10 weeks
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