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Pathology - von Willebrand disease
Definition: An inherent predisposition to bleeding resulting from a quantitative or qualitative deficiency of von Willebrand factor (vWF).
Epidemiology The most prevalent hereditary coagulopathy. Type 1 (75%) constitutes a quantitative deficiency. Type 2 (20%) constitutes a qualitative flaw. Type 3, albeit less common, represents the most severe manifestation of the disease. The vWF gene resides on chromosome 12. Types 1 and 2 are transmitted in an autosomal dominant manner. Type 3 is an autosomal recessive characteristic.
Pathogenesis • von Willebrand factor (vWF) functions as an adhesion molecule, facilitating platelet attachment to subendothelial structures, and serves as a carrier for factor VIII. • Insufficient vWF activity results in a propensity for bleeding, attributable to impaired platelet adhesion and factor VIII deficiency. Presentation • The primary signs include mucosal hemorrhaging, especially epistaxis, and bleeding subsequent to trauma or surgical procedures.
Joint and muscle hemorrhages are infrequent and manifest solely in type 3 illness. Coagulation assessments • Extended activated partial thromboplastin time (APTT). • Extended hemorrhagic duration. • Normal prothrombin time (PT). Formal diagnosis necessitates the quantification of plasma von Willebrand factor (vWF) and the assessment of vWF functionality, such as through the ristocetin-induced platelet agglutination assay.
Prognosis: Most patients necessitate no further treatment. • Prophylactic therapy is used prior to surgery
Definition: An inherent predisposition to bleeding resulting from a quantitative or qualitative deficiency of von Willebrand factor (vWF).
Epidemiology The most prevalent hereditary coagulopathy. Type 1 (75%) constitutes a quantitative deficiency. Type 2 (20%) constitutes a qualitative flaw. Type 3, albeit less common, represents the most severe manifestation of the disease. The vWF gene resides on chromosome 12. Types 1 and 2 are transmitted in an autosomal dominant manner. Type 3 is an autosomal recessive characteristic.
Pathogenesis • von Willebrand factor (vWF) functions as an adhesion molecule, facilitating platelet attachment to subendothelial structures, and serves as a carrier for factor VIII. • Insufficient vWF activity results in a propensity for bleeding, attributable to impaired platelet adhesion and factor VIII deficiency. Presentation • The primary signs include mucosal hemorrhaging, especially epistaxis, and bleeding subsequent to trauma or surgical procedures.
Joint and muscle hemorrhages are infrequent and manifest solely in type 3 illness. Coagulation assessments • Extended activated partial thromboplastin time (APTT). • Extended hemorrhagic duration. • Normal prothrombin time (PT). Formal diagnosis necessitates the quantification of plasma von Willebrand factor (vWF) and the assessment of vWF functionality, such as through the ristocetin-induced platelet agglutination assay.
Prognosis: Most patients necessitate no further treatment. • Prophylactic therapy is used prior to surgery
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