Ozel Demiralp Duygu, Ekim Mesiha, Akar Nejat
Biotechnology Institute, Ankara University, Ankara, Turkey.
Clin Appl Thromb Hemost. 2009 Jul-Aug;15(4):443-7. doi: 10.1177/1076029608325540. Epub 2008 Nov 24.
Familial Mediterranean fever (FMF) is an autosomal recessive disease that is the most common of a rare group of disorders collectively termed familial hereditary periodic fever syndromes, also known as autoinflammatory syndromes. FMF is predominantly affecting people of Mediterranean descent and clinically characterized by intermittent attacks of fever with peritonitis and abdominal pain, pleuritis, arthritis, or erysipelas-like rashes. Amyloidosis due to chronic inflammation progressing to renal failure is one of the most serious potential complications of this disease.Patients with inflammatory diseases, such as systemic lupus erythematosus and rheumatoid arthritis, and conditions with chronic subclinical inflammation, like obesity and diabetes mellitus, are now considered to have an increased risk of atherosclerotic cardiovascular complications. FMF is also an inflammatory disease, and it is accepted that even during attack-free periods significant inflammatory reaction continues. However, whether this inflammatory process causes premature atherosclerosis is not known due to a lack of data.Different studies have investigated the association between the fibrinolytic and inflammatory process parameters. PAI-1 is paracrine secretion of pro- and antiinflammatory cytokines, thereby playing a possible role in the adiposity-related inflammation and atherosclerosis. The patients with IRS have higher values of fibrinogen, factor VII, VIII, Von Willebrand factor and Plasminogen Activator Inhibitor (PAI) compared to control subjects. So that we aimed in this study to investigate whether FMF patients with/without amyloidosis and with M694V homozygote mutation, have increased risk for atherosclerotic cardiovascular complications and to determine the strength of association between MEFV gene-mutation types. To our knowledge, this is the first case control and cross-sectional study in the pediatric age groups.
家族性地中海热（FMF）是一种常染色体隐性疾病，是一组统称为家族遗传性周期性发热综合征（也称为自身炎症综合征）的罕见疾病中最常见的一种。FMF主要影响地中海血统的人群，其临床特征为发热伴腹膜炎和腹痛、胸膜炎、关节炎或丹毒样皮疹的间歇性发作。慢性炎症进展至肾衰竭导致的淀粉样变性是该疾病最严重的潜在并发症之一。患有炎症性疾病（如系统性红斑狼疮和类风湿性关节炎）以及具有慢性亚临床炎症的疾病（如肥胖症和糖尿病）的患者，目前被认为发生动脉粥样硬化性心血管并发症的风险增加。FMF也是一种炎症性疾病，人们公认即使在无发作期也会持续存在显著的炎症反应。然而，由于缺乏数据，尚不清楚这种炎症过程是否会导致过早的动脉粥样硬化。
不同的研究探讨了纤溶和炎症过程参数之间的关联。纤溶酶原激活物抑制剂-1（PAI-1）是促炎和抗炎细胞因子的旁分泌产物，因此可能在与肥胖相关的炎症和动脉粥样硬化中发挥作用。与对照组相比，胰岛素抵抗综合征（IRS）患者的纤维蛋白原、因子VII、VIII、血管性血友病因子和纤溶酶原激活物抑制剂（PAI）水平更高。因此，我们在本研究中旨在调查患有/未患有淀粉样变性且具有M694V纯合子突变的FMF患者发生动脉粥样硬化性心血管并发症的风险是否增加，并确定MEFV基因突变类型之间的关联强度。据我们所知，这是儿科年龄组中的首例病例对照和横断面研究。
