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Journal of Clinical Pathology logoLink to Journal of Clinical Pathology
. 1985 Jun;38(6):665–670. doi: 10.1136/jcp.38.6.665

Investigation of a kindred with a new autosomal dominantly inherited variant type von Willebrand's disease (possible type IID).

F G Hill, M S Enayat, A J George
PMCID: PMC499265  PMID: 3924978

Abstract

A further type II variant of von Willebrand's disease has been identified in five family members who have the clinical symptoms of von Willebrand's disease. This variant is characterised by loss of high molecular weight VIIIR:AG multimers and the replacement of the normal triplet multimer configuration by a single dense band. In addition, variable minor bands are seen. These variants appear similar to those recently reported by Kinoshita et al and designated as type IID.

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Selected References

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  1. Armitage H., Rizza C. R. Two populations of factor VIII-related antigen in a family with von Willebrand's disease. Br J Haematol. 1979 Feb;41(2):279–289. doi: 10.1111/j.1365-2141.1979.tb05856.x. [DOI] [PubMed] [Google Scholar]
  2. Enayat M. S., Hill F. G. Analysis of the complexity of the multimeric structure of factor VIII related antigen/von Willebrand protein using a modified electrophoretic technique. J Clin Pathol. 1983 Aug;36(8):915–919. doi: 10.1136/jcp.36.8.915. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Enayat M. S., Hill F. G. Qualitative VIIIR: AG function screening of multiple samples by two-dimensional crossed immunoelectrophoretic technique. Med Lab Sci. 1982 Oct;39(4):357–362. [PubMed] [Google Scholar]
  4. Hill F. G., Chan M. C., Hardisty R. M. Von Willebrand's syndrome. Studies on a variant factor VIII. Haemostasis. 1976;5(5):276–284. doi: 10.1159/000214146. [DOI] [PubMed] [Google Scholar]
  5. Hutton R. A., Howard M. A., Deykin D., Hardisty R. M. Methods for the separation of platelets from plasma. A comparison of functional and morphological integrity. Thromb Diath Haemorrh. 1974 Mar 15;31(1):119–132. [PubMed] [Google Scholar]
  6. Kernoff P. B., Gruson R., Rizza C. R. A variant of factor 8 related antigen. Br J Haematol. 1974 Mar;26(3):435–440. doi: 10.1111/j.1365-2141.1974.tb00484.x. [DOI] [PubMed] [Google Scholar]
  7. Kinoshita S., Harrison J., Lazerson J., Abildgaard C. F. A new variant of dominant type II von Willebrand's disease with aberrant multimeric pattern of factor VIII-related antigen (type IID). Blood. 1984 Jun;63(6):1369–1371. [PubMed] [Google Scholar]
  8. Mannucci P. M., Lombardi R., Pareti F. I., Solinas S., Mazzucconi M. G., Mariani G. A variant of von Willebrand's disease characterized by recessive inheritance and missing triplet structure of von Willebrand factor multimers. Blood. 1983 Nov;62(5):1000–1005. [PubMed] [Google Scholar]
  9. POOL J. G., ROBINSON J. Assay of plasma antihaemophilic globulin (AHG). Br J Haematol. 1959 Jan;5(1):17–23. doi: 10.1111/j.1365-2141.1959.tb04009.x. [DOI] [PubMed] [Google Scholar]
  10. Peake I. R., Bloom A. L., Giddings J. C. Inherited variants of factor-VIII-related protein in von Willebrand's disease. N Engl J Med. 1974 Jul 18;291(3):113–117. doi: 10.1056/NEJM197407182910301. [DOI] [PubMed] [Google Scholar]
  11. Ruggeri Z. M., Nilsson I. M., Lombardi R., Holmberg L., Zimmerman T. S. Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand's disease (type IIC). J Clin Invest. 1982 Nov;70(5):1124–1127. doi: 10.1172/JCI110700. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Ruggeri Z. M., Pareti F. I., Mannucci P. M., Ciavarella N., Zimmerman T. S. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease. N Engl J Med. 1980 May 8;302(19):1047–1051. doi: 10.1056/NEJM198005083021902. [DOI] [PubMed] [Google Scholar]
  13. Ruggeri Z. M., Zimmerman T. S. The complex multimeric composition of factor VIII/von Willebrand factor. Blood. 1981 Jun;57(6):1140–1143. [PubMed] [Google Scholar]
  14. Ruggeri Z. M., Zimmerman T. S. Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest. 1980 Jun;65(6):1318–1325. doi: 10.1172/JCI109795. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Short P. E., Williams C. E., Enayat M. S., Picken A. M., Hill F. G. Lack of correlation between factor VIII related antigen multimeric analysis pattern and parallel or non-parallel dose response curves in an ELISA factor VIII related antigen assay. J Clin Pathol. 1984 Feb;37(2):194–199. doi: 10.1136/jcp.37.2.194. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Weiss H. J., Hoyer L. W., Rickles F. R., Varma A., Rogers J. Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content. J Clin Invest. 1973 Nov;52(11):2708–2716. doi: 10.1172/JCI107465. [DOI] [PMC free article] [PubMed] [Google Scholar]

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