Which of the following is an Autosomal Dominant disease?
Von Willebrand disease (VWD) - Autosomal dominant disorder The main source of plasma von-Willebrand factor is endothelial cells. von Willebrand factor (Vwf) circulates in the plasma in association with factor VIII. Patients with VWD have defects in platelet function despite a normal platelet count Deficiency of von Willebrand factor (vWF) -promote platelet adherence and activation) causes | platelet adhesion (|BT) and | Intrinsic pathway activity (| aPTT). C/F Spontaneous mucosal bleeding - Petechiae /purpura /epistaxis / melena excessive bleeding from wounds menorrhagia Lab findings - Platelet count - Normal Prothrombin time - Normal Bleeding time - Increased Activated paial thromboplastin time (aPTT)-Increased Rx - Desmopressin for mild form - Cryoprecipitate for severe form
Von Willebrand disease
Wilson's disease
Cystic fibrosis
Friedrichs ataxia
FMGE 2019