A case report of type 2M Von Willebrand disease withunique mutations
Gene: VWF
HGNCID: 12726
Case: 55 year old female
DiseaseAssertion: type 2M VWD
FamilyInfo: one sister with VWD of unknown type. Four other siblings with no bleeding history.
CasePresentingHPOs: HP:0002239 (Gastrointestinal hemorrhage), Gastrointestinal angiodysplasia HP:0000471, Hemoptysis HP:0002105, Epistaxis HP:0000421, Menorrhagia HP:0000132
CaseHPOFreeRext: normal PT/aPTT. Von Willebrand panel shows vWF antigen of 33%, VWF ristocetin cofactor activity of 15%, and Factor VIII of 87%. The ratio (VWF: RCo/VWF: Ag) is low (0.45) and the multimer pattern is normal.
Gene: VWF
Variant: c.4241T>G (p.Val1414Gly) and c.5227G>A (p.Val1743Met)
ClinVarID: 619752, 801307