Congenital prekallikrein deficiency

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Congenital prekallikrein deficiency

A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic although an association with cardiovascular conditions (hypertension myocardial infarction other coronary artery diseases and ischemic strokes) and venous thrombosis as well as rare cases with increased bleeding tendency have been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Congenital prekallikrein deficiency?

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