von Willebrand Disease
Predisposing factors/ Epidemiology:
Most common inherited bleeding disorder. Autosomal dominant with varying expression.
Signs & Symptoms
Mucous membrane bleeding (e.g. epistaxis, menorrhagia), excessive blood loss from superficial cuts and abrasions, operative and post-traumatic hemorrhage.
Abnormal function or reduced level of vWF resulting from a point mutation or major deletion.
Peripheral blood characteristics
Lymphocytosis with small lymphocytes. Smudge or smear cells may be present. Normochormic normocytic anemia due to marrow infiltration or hypersplenism.
Important investigations & related results
Prolonged BT, and maybe APTT. Factor VIII and vWF levels are low. Platelet count is normal except in type 2B where it is low.
Type 1: Quantitative partial deficiency, Type 2: Functional abnormality, Type 3: Complete deficiency.
Treatment & management
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