La Regina Micaela, Orlandini Francesco, Manna Raffaele
Department of Internal Medicine, Ligurian East Hospital, La Spezia, Italy.
Centre of Periodic Fevers - Catholic University of Rome, Rome, Italy.
Thromb J. 2015 May 12;13:19. doi: 10.1186/s12959-015-0049-x. eCollection 2015.
Autoinflammatory diseases are a group of disorders due to acquired or hereditary disfunction of innate immune system and characterized by systemic or localized manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder, whose causing gene (MeFV gene) was identified in 1997 and opened the way to a new fascinanting chapter of rheumatology. A growing body of monogenic and poligenic autoinflammatory disorders has been described since then. Arterial and venous thrombosis is a common medical problem, with significant morbidity and mortality. Strong evidences from basic research and clinical epidemiological studies support the theory that inflammation and thrombosis can be associated. Because of their recurrent/chronic inflammatory nature, autoinflammatory diseases are a putative cause of thrombotic manifestations. In the present work, we reviewed the available evidences about monogenic autoinflammatory disorders, complicated by thrombotic manifestations.
自身炎症性疾病是一组由于先天性免疫系统获得性或遗传性功能障碍而导致的疾病，其特征为全身性或局部性表现。其原型是家族性地中海热，一种单基因遗传性疾病，其致病基因（MeFV基因）于1997年被鉴定出来，为风湿病学开启了新的迷人篇章。从那时起，越来越多的单基因和多基因自身炎症性疾病被描述出来。动脉和静脉血栓形成是一个常见的医学问题，具有显著的发病率和死亡率。基础研究和临床流行病学研究的有力证据支持炎症和血栓形成可能相关的理论。由于自身炎症性疾病具有复发性/慢性炎症的性质，它们被认为是血栓形成表现的一个潜在原因。在本研究中，我们回顾了关于伴有血栓形成表现的单基因自身炎症性疾病的现有证据。
