A VARIANT OF VONWILLEBRAND DISEASE WITH ABNORMAL EXPRESSION OF FACTOR-VIII PROCOAGULANT ACTIVITY

  • 1 January 1982
    • journal article
    • research article
    • Vol. 60  (1) , 201-207
Abstract
Reports on variants of von Willebrand''s disease are numerous, but many 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 was a normal APTT [activated partial thromboplastin time], slightly reduced 1-stage factor VIII:C assay (VIII:C-1) and a drastically reduced 2-stage factor VIII:C assay (VIII:C-2). The VIII:C in this variant was more readily adsorbed to AI(OH)3. This variability in VIII:C assays and excessive adsorption to AI(OH)3 were corrected by the addition of either hemophilic plasma or hemophilic factor-VIII-related antigen. This variant was stable with restudy on multiple occasions and was inherited in a stable fashion in 3 generations of 1 family. The multimeric structure of the VIIIR:Ag appeared normal, although the concentration was 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.