Orphanet: Congenital high molecular weight kininogen deficiency

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Disease definition

A rare genetic hematologic disease characterized by abnormal surface-mediated activation of fibrinolysis due to the deficiency of high-molecular-weight kininogen in plasma. Activated partial thromboplastin time (aPTT) may be prolonged. Clinically, patients are typically asymptomatic and do not show increased bleeding or thrombotic tendency.

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Congenital high-molecular-weight kininogen deficiency

ORPHA:483

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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