Zusammenfassung
Die bei 5 von 8 Kindern einer Familie beobachtete angeborene hämorrhagische Diathese war gerinnungsanalytisch charakterisiert durch verlängerte Blutungszeiten, verminderte Adhäsivitäten und verminderte Aktivität des Ristocetin-von Willebrand-Faktors. Die Faktor VIII-Aktivität und das Faktor VIII-assoziierte Antigen waren dagegen nicht vermindert. Die Befunde, die bei den Eltern und den Kindern in der zweidimensionalen Immunelektrophorese erhoben werden konnten, gaben Hinweis auf das Vorliegen eines qualitativ veränderten Faktor VIII-assoziierten Antigens.
Summary
A family is described in which 5 out of 8 children had a marked bleeding disorder. The children showed prolonged bleeding times, abnormal platelet retention upon passage of blood through a glass bead column, the Willebrand factor activity as measured by ristocetin in a washed platelet system was low. Factor VIII/von Willebrand factor protein levels were normal even so the factor VIII-procoagulant activity. Even the parents and one child without any bleeding tendency and normal bleeding times had a reduced Willebrand factor activity. In all these patients evidence of an abnormal protein was observed on crossed antigen-antibody electrophoresis indicating a qualitative defect of the factor VIII/von Willebrand factor protein.
This is a preview of subscription content, log in via an institution to check access.
Literatur
Alexandre P., Streiff F., Stoltz J.-F. & Andre E.: Maladie de Willebrand et agrégation plaquettaire en présence de Ristocétine. Blut 31, 87 (75).
Clarke H. G. M. & Freeman T.: Quantitative immunelectrophoresis of human serum proteins.Clin. Sci. 35, 403 (1968).
Firkin G. B. & Howard M. A.: Ristocetin a new approach to the investigation of von Willebrand's disease.Aust. N. Z. Med. 3, 279 (1971).
Firkin B., Firkin F. & Scott L.: von Willebrand's disease type B: A newly defined bleeding diathesis.Aust. N. Z. J. Med. 3, 225 (1973).
Firkin B. & Koutts J.: Factor VIII related antigen and von Willebrand factor.Lancet 1, 803 (1974).
Gralnick H. R., Coller B. S. & Sultan Y.: Studies of the human factor VIII/ von Willebrand factor protein. III. Qualitative defects in von Willebrand's disease.J. clin. Invest. 56, 814 (1975).
Hellem A. J.: Platelet adhesiveness in von Willebrand's disease. A study with a new modification of the glass bead filter method.Scand. J. Haemat. 7, 374 (1970).
Holmberg L. & Nilsson M.: Genetic variants of von Willebrand's disease.Brit. med. J. 3, 317 (1972).
Holmberg L. & Nilsson M.: Two genetic variants of von Willebrand's disease.New Engl. J. Med. 288, 595 (1973).
Howard M. A. & Firkin G. B.: Ristocetin-A new tool in the investigation of platelet aggregation.Thromb. Diath. Haemorrb. 26, 362 (1971).
Ivy A. V., Shapiro P. F. & Melnick V.: The bleeding tendency in jaundice.Surg. Gynec. Obstet. 60, 781 (1935).
Kernoff P. B. A., Gruson R. & Rizza C. R.: A variant of factor VIII-related antigen.Brit. J. Haemat. 26, 435 (1974).
Laurell C. B.: Quantitative estimation of proteins by electrophoresis in agarosegel containing antibodies.Anal. Biochem. 15, 45 (1966).
Meyer D., Jenkins C. S. P., Dreyfus M. D., Fresinaud E. & Larrieu M. J.: Willebrand factor and Ristocetin. II. Relationship between Willebrand factor, Willebrand antigen and factor VIII-activity.Brit. J. Haemat. 28, 579 (1974).
Meyer D., Jenkins C. S. P., Dreyfus M. & Larrieu M. J.: Willebrand factor activity and antigen in von Willebrand's disease.Lancet 1, 594 (1974).
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. 29, 113 (1974).
Stableforth P., Hughes J., Milson E. & Dormandy K. M.: The von Willebrand syndrome.Brit. J. Haematol. 29, 605 (1975).
Sutor A. H., Heidmann M. & Künzer W.: Die Blutungszeitbestimmung im Kindesalter und ihre klinische Anwendung.Med. Welt (N. F.)23, 1692 (1972).
Thomson C., Forbes C. D. & Prentice C. R. M.: Evidence for a qualitative defect in factor VIII-related antigen in von Willebrand's disease.Lancet 1, 54 (1974).
Weiss H. J., Hoyer L., Rickels F. R., Varman H. & Rogers J.: Quantitative assay of a plasma factor deficient in von Willebrand's disease that ist necessary for platelet aggregation: Relationship to factor VIII procoagulant activity and antigen content.J. clin. Invest. 52, 2708 (1973).
Weiss H. J.: Abnormalities of the factor VIII and platelet aggregation — Use of Ristocetine in diagnosing the von Willebrand Syndrome.Blood 45, 403 (1975).
Zimmermann T. H., Ratnoff O. D. & Powell A. E.: Immunologic differentiation of classic hemophilia (factor VIII-deficiency) and von Willebrand's disease: With observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor.J. clin. Invest. 50, 244 (1971).
Author information
Authors and Affiliations
Additional information
Mit teilweiser Unterst∋tzung der Deutschen Forschungsgemeinschaft.
Rights and permissions
About this article
Cite this article
Böttcher, D., Hasler, K., Sutor, A.H. et al. Von Willebrand-Jürgens-Syndrom mit einer Variante des Faktor VIII-assoziierten Antigens. Blut 33, 33–40 (1976). https://doi.org/10.1007/BF01005210
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF01005210