Abstract
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.
Highlights
Auto-inflammatory diseases (AIDs) are a group of disorders, pathophysiologically characterized by acquired or hereditary defects of innate immune system and clinically by systemic and/or localized, chronic or recurrent inflammatory manifestations
Our research retrieved 33 papers about familial Mediterranean fever (FMF) complicated by thrombotic diseases (22 after exclusion of duplicated papers), 2 about TNF receptor associated periodic syndrome (TRAPS) and increased risk of atherosclerosis and acute myocardial infarction and one about Muckle-Wells syndrome (MWS)/neonatal-onset multisystem inflammatory disease (NOMID) overlap complicated by cerebrovascular accident (CVA)
The association of FMF with thrombotic manifestations, instead, relies on 4 laboratory studies, 2 review, 9 case reports and 9 case series, ranging from pulmonary embolism to thrombosis in atypical sites, stroke or myocardial infarction
Summary
Auto-inflammatory diseases (AIDs) are a group of disorders, pathophysiologically characterized by acquired or hereditary defects of innate immune system and clinically by systemic and/or localized, chronic or recurrent inflammatory manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder, whose gene causing (MeFV gene) was identified in 1997 and opened the way to a new fascinanting chapter of rheumatology. The discovery of this and other genes, involved in autoinflammatory diseases, has allowed to better understand the single disease, and the mechanisms of inflammation. Monogenic diseases can be distinguished according to pathogenesis or their main clinical features (Table 1) [1]
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