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Von Willebrand Disease

 Syn. VWD

Signs & Symptoms

 X-linked recessive inheritance (negative symptom)
Ref: Epocrates [ Https://online.epocrates.com/diseases/365/von-Willebrand-disease]
Autosomal dominant inheritance (negative symptom)
Ref: Epocrates [ Https://online.epocrates.com/diseases/365/von-Willebrand-disease]
Autosomal recessive inheritance
Ref: Epocrates [ Https://online.epocrates.com/diseases/365/von-Willebrand-disease]
Mild thrombocytopenia #Type_2B_VWD
Ref: Uptodate [ Clinical presentation and diagnosis of von Willebrand disease]

Physical Examination

 Response to treatment with IVIG (negative symptom)
Ref: Uptodate [ Clinical presentation and diagnosis of von Willebrand disease]
Short-lived response to desmopressin (negative symptom)
Ref: Uptodate [ Clinical presentation and diagnosis of von Willebrand disease]
Short-lived response to VWF-containing concentrates (negative symptom)
Ref: Uptodate [ Clinical presentation and diagnosis of von Willebrand disease]

Lab / Serology

 Mutation analysis consistent for VWD
Note: Most available for type 2 VWD
Ref: Epocrates [ Https://online.epocrates.com/diseases/365/von-Willebrand-disease]
Abnormal von Willebrand factor multimer analysis
Ref: Epocrates [ Https://online.epocrates.com/diseases/365/von-Willebrand-disease]
Prolonged Prothrombin time
Ref: Epocrates [ Https://online.epocrates.com/diseases/365/von-Willebrand-disease]

Imagin Study

 Joint bleeding
Note: due to Decreased factor VIII, In those rare patients with a markedly decreased factor VIII
Ref: Epocrates [ Https://online.epocrates.com/diseases/365/von-Willebrand-disease]

Complication

Risk Factors

Cause

Other