title: Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families.
abstract: For a long time, autosomal recessive inheritance has been considered a unique feature of type 3 von Willebrand disease (VWD), which is characterized by the virtual absence of von Willebrand factor (VWF) in plasma and storage compartments. In recent years, it has been demonstrated that this type of inheritance is also present in some type 1 and 2 families, previously considered the epitome of true dominant transmission. In many patients of these families with recessive VWD, molecular basis studies have provided insights into the molecular mechanisms responsible for the heterogeneity of phenotypes. We report our experience with 12 families with clearly recessive inheritance, but definitely measurable factor VIII and VWF, which is not typical for severe type 3 VWD.
authors.affiliation: Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy. castaman@hemato.ven.it
authors.forename: G
authors.initials: G
authors.lastname: Castaman
authors.forename: S
authors.initials: S
authors.lastname: Giacomelli
authors.forename: F
authors.initials: F
authors.lastname: Rodeghiero
mesh_terms: D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D005169:Factor VIII / Q000032:analysis; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D020836:Protein Structure, Quaternary; D017434:Protein Structure, Tertiary; D022821:RNA Splice Sites / Q000235:genetics; D012189:Retrospective Studies; D014842:von Willebrand Diseases / Q000145:classification / Q000188:drug therapy / Q000235:genetics*; D014841:von Willebrand Factor / Q000032:analysis / Q000737:chemistry / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D022821:RNA Splice Sites; D014841:von Willebrand Factor; D005169:Factor VIII; D003894:Deamino Arginine Vasopressin