thrombophilia


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Related to thrombophilia: MTHFR

thrombophilia

(ˌθrɒmbəʊˈfɪlɪə)
n
(Pathology) a condition marked by the tendency to develop blood clots or thrombosis
Collins English Dictionary – Complete and Unabridged, 12th Edition 2014 © HarperCollins Publishers 1991, 1994, 1998, 2000, 2003, 2006, 2007, 2009, 2011, 2014

thrombophilia

a tendency to the occurrence of thrombosis or abnormal blood clotting.
See also: Disease and Illness
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Pharmaceuticals company Roche (SIX:RO)(OTCQX:RHHBY) stated on Tuesday that it has passed the US FDA clearance for the cobas Factor II and Factor V Test for use on the cobas 4800 system for testing of patients for inherited thrombophilia.
M2 PHARMA-February 14, 2018-Roche wins US FDA clearance for Factor II and Factor V test on the cobas 4800 system for the diagnosis of suspected thrombophilia
The SPS was first described in the 80s as a thrombophilia in which qualitative alterations of the platelet function increase its aggregation capacity, favoring in this way thrombosis with described cases of cerebrovascular disease, acute myocardial infarction, and ischemic retinopathy [7].
There are few reports describing the classical angiographic appearance of moyamoya vessels with abnormal thrombophilia profile.
Thrombophilia screen included protein S, protein C, antithrombin, paroxysmal nocturnal hemoglobinuria (flow cytometry with CD55, CD59, and fluoresce-in-labeled proaerolysin (FLAER) expression), and JAK2 mutation.
HHT and thrombophilia are rarely seen concomitantly as two genetic disorders that exhibit theoretically opposite actions on hemostasis (2,3,4).
In younger patients, inherited thrombophilia screening should also be considered, especially if VTE occurs recurrently or without obvious acquired reason (9).
The other diseases covered by the tests are celiac disease, alpha-1 antitrypsin deficiency, early onset primary dystonia, Factor XI deficiency, Gaucher disease type 1, glucose-6-Phosphate Dehydrogenase deficiency (also known as G6PD), hereditary hemochromatosis, and hereditary thrombophilia.
Both inherited and acquired thrombophilia factors are frequently identified in cases of large vein thrombosis [7].
Evidence of multiple arterial and venous clots in addition to the large cardiac thrombus raised the suspicion for inherited thrombophilia. The coagulability workup was performed and came back positive for protein C and S deficiency, with activity of 26% (normal range: 84-171) and 18% (normal range: 54-132% for females) for proteins C and S, respectively.
Here, we report a case of a paradoxical embolism caused by ASD involving only one kidney in the setting of an inherited thrombophilia.