Division of Rheumatology, Gulhane School of Medicine, Ankara, Turkey.
Rheumatol Int. 2013 Apr;33(4):893-7. doi: 10.1007/s00296-012-2453-x. Epub 2012 Jul 20.
Although the inflammatory cascade of familial Mediterranean fever (FMF) is partially understood, triggering factors of those attacks has not been studied well. It is supposed that physical stresses such as cold exposure, tiredness and emotional stresses could provoke attacks. This study is aimed to survey the factors regarded as triggering the attacks in patients with FMF and their relationship with MEFV gene mutations. Clinical findings and genetic mutations (consist of M694V, M694I, M680I, V726A, E148Q) of patients were recorded. Patients were questioned about cold exposure, emotional stress, tiredness, long-lasting standing, long-duration travel, starvation, high intake of food, trauma, and infection as triggering factors for the attacks with both serositis and musculoskeletal pain. The study is comprised of 275 FMF patients (male/female: 177/98). The most common triggering factors for the attacks with serositis were cold exposure (59.3 %), emotional stress (49.8 %), tiredness (40.0 %) and menstruation (33.7 % in females). Long-lasting standing (78.8 %), long-duration travel (64.1 %) and tiredness (47.8 %) were the triggering factors for the attacks with musculoskeletal symptoms. The relationships between MEFV mutations and triggering factors were found as M694V allele with starvation, E148Q allele with high intake of food and V726A allele with long-duration travel. The attacks with serositis seem to be triggered by those factors to which whole body exposed, whereas the attacks with musculoskeletal complaints seem to be triggered by those factors to which regional or local part of body exposed. Since the number of alleles was small, a clear conclusion for a relationship between a particular gene variant and a specific trigger was not made.
尽管家族性地中海热(FMF)的炎症级联反应部分得到了解释,但这些攻击的触发因素尚未得到很好的研究。据推测,身体应激如寒冷暴露、疲劳和情绪压力可能会引发攻击。本研究旨在调查 FMF 患者认为引发攻击的因素及其与 MEFV 基因突变的关系。记录了患者的临床发现和基因突变(包括 M694V、M694I、M680I、V726A、E148Q)。患者被问及寒冷暴露、情绪压力、疲劳、长时间站立、长途旅行、饥饿、大量进食、创伤和感染是否会引发肌痛性关节痛和浆膜炎。本研究包括 275 名 FMF 患者(男/女:177/98)。引发浆膜炎发作的最常见触发因素是寒冷暴露(59.3%)、情绪压力(49.8%)、疲劳(40.0%)和月经(女性中 33.7%)。长时间站立(78.8%)、长途旅行(64.1%)和疲劳(47.8%)是引发肌痛性关节痛发作的因素。MEFV 基因突变与触发因素之间的关系为 M694V 等位基因与饥饿有关,E148Q 等位基因与大量进食有关,V726A 等位基因与长途旅行有关。浆膜炎发作似乎是由全身暴露的因素引发的,而肌痛性关节痛发作似乎是由身体局部或局部暴露的因素引发的。由于等位基因数量较少,因此无法得出特定基因变异与特定触发因素之间存在关系的明确结论。