title: Diagnostic and therapeutic difficulties in type 2A von Willebrand disease: resolution.
abstract: A patient with type 2A von Willebrand disease and a long history of gastrointestinal (GI) bleeding is presented, in whom no abnormality was found on sequencing the von Willebrand factor gene at the DNA level. Subsequent RNA analysis revealed him to be heterozygous for a T-C substitution at nucleotide 4,883, a mutation previously described and associated with type 2A von Willebrand disease. This illustrates the value of a dual DNA/ RNA approach to genetic investigations of highly polymorphic genes. GI bleeding from angiodysplasia is a feature of von Willebrand disease, particularly type 2A. Proactive management with definitive diagnosis of angiodysplasia and ablative treatment where feasible is recommended to stop bleeding symptoms and minimize exposure to blood products.
authors.affiliation: The Reference Centre for Haemostasis and Thrombosis, St Thomas' Hospital, London, United Kingdom.
authors.forename: M R
authors.initials: MR
authors.lastname: Thomas
authors.forename: J A
authors.initials: JA
authors.lastname: Cutler
authors.forename: G F
authors.initials: GF
authors.lastname: Savidge
mesh_terms: D016888:Angiodysplasia / Q000175:diagnosis; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D006471:Gastrointestinal Hemorrhage; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D012313:RNA / Q000235:genetics; D014842:von Willebrand Diseases / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor; D012313:RNA; D004247:DNA