Von willebrand disease|Pathophysiology of von Willebrand diseaselSign|symptoms|diagnosis| treatment

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#Von willebrand Disease
#Pathophysiology of von Willebrand disease
#Clinical presentation of von Willebrand disease
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Definition:
An autosomal dominant defect or deficiency in vWF with ↓ levels of factor VIII, lead to bleeding.

Types of von Willebrand disease:
☆Type 1
☆Type 2
☆Type 3

Type 1 vWD (mild to moderate deficiency in vWF).
Type 2 includes qualitative defects in vWF,
and type 3 is absence of functional vWF.

Clinical Presentation of von Willebrand disease:
☆Often presents in childhood with recurrent and prolonged mucosal bleeding (epistaxis, gums, gingival, menorrhagia) and bleeding after dental or
surgical procedures.
☆Often a family history is present.
☆Symptoms worsen with acetylsalicylic acid (ASA) use.

Diagnosis:


Ristocetin cofactor assay of patient plasma is diagnostic. It measures the
capacity of vWF to agglutinate platelets and detects vWF dysfunction.
☆vWF antigen level: ↓ Levels of antigen may be present.
☆ Initial bleeding workup will show an ↑ bleeding time in all vWD types.
☆↑ PTT as in hemophilia may be seen caused by low factor VIII levels. PT
and platelet count will be normal.

Treatment:

☆Desmopressin for mild to moderate disease.
☆Use factor VII replacement or vWF concentrate for severe disease, disease
that does not respond to desmopressin, or for major bleeds and surgery.
☆Control menorrhagia with oral contraceptive pills (OCPs). Avoid ASA,
NSAIDs, and platelet function inhibitors.

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