A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

摘要: A simplified phenotypic classification of von Willebrand disease is proposed that based on differences in pathophysiology. Quantitative defects arc divided into partial deficiency (type 1) and severe 3). Qualitative 2) are four subcategories. Type 2A refers to variants with decreased platelet-dependent function associated the loss high-molecular weight VWF multimers. 2B increased affinity for platelet glycoprotein lb. 2M qualitatively abnormal not 2N factor VIII. When recognized, mixed phenotypes caused by compound heterozygosity indicated separate each allele. Standard amino acid nucleotide numbering schemes recommended description mutations.