A variant of von Willebrand's disease with abnormal expression of factor VIII procoagulant activity. Blood 1982 Jul;60(1):201-7
Date
07/01/1982Pubmed ID
6805535DOI
10.1182/blood.v60.1.201.bloodjournal601201Scopus ID
2-s2.0-0019947580 (requires institutional sign-in at Scopus site) 40 CitationsAbstract
Reports on variants of von Willebrand's disease are numerous, but many of these are based on tests that will show marked fluctuations with time and tests that might not be similar in affected family members. This report describes 8 patients with a new variant of von Willebrand';s disease in which there is a normal APTT, slightly reduced one-stage factor VIII:C assay (VIII:C-1), and a drastically reduced two-stage factor VIII:C assay (VIII:C-2). The VIII:C in this variant is more readily adsorbed to AI(OH)3. This variability in VIII:C assays and excessive adsorption to AI(OH)3 are corrected by the addition of either hemophilic plasma or hemophilic factor-VIII-related antigen. This variant is stable with restudy on multiple occasions and is inherited in a stable fashion in three generations of one family. The multimeric structure of the VIIIR:Ag appears normal, although the concentration is moderately reduced. The differences in functional activity, the adsorption to AI(OH)3, and the differences between functional and antigenic (VIII:C Ag) assays of VIII:C support that this is a functional abnormality of type I von Willebrand's disease.
Author List
Montgomery RR, Hathaway WE, Johnson J, Jacobson L, Muntean WAuthor
Robert R. Montgomery MD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultAged
Aluminum Hydroxide
Antigens
Blood Coagulation Tests
Child, Preschool
Factor VIII
Female
Genetic Variation
Glycoproteins
Hemophilia A
Humans
Male
Partial Thromboplastin Time
Pedigree
Protease Inhibitors
von Willebrand Diseases
von Willebrand Factor
