Congenital high-molecular-weight kininogen deficiency
ORPHA:483· ICD-10 D68.8
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.
- Inheritance
- Autosomal recessive