Von Willebrand’s disease was first described in 1926 by Erik Von Willebrand. It is a genetic, constitutional defect of hemostasis that is different from hemophilia. It is classified among the rare diseases whose clinical manifestations are dominated by a hemorrhagic profile, which varies from patient to patient. It is an easily diagnosed disease based on a quantitative and qualitative bioassay of VWF. Treatment is multidisciplinary and is based on well-structured prevention. We report the first case of von Willebrand disease in Niger, diagnosed in the Hematology Department of Niamey’s National Hospital.
References
[1]
Ribba, A.S., Hilber, L., Lavergne, J.M., Fressinaud, E., Boyer-Neumann, C., Ternicien, C., et al. (2001) The Arginine-552-CYSTEINE (R1315C) Mutation within the AJ Loop of Von Willebrand Factor Induces an Abnormal Folding with a Loss Function Resulting in Type 2A Like Phenotype of von Willebrand Disease: Study of 10 Patients and Mutated Recombinant von Willebrand Factor. Blood, 97, 952-959. https://doi.org/10.1182/blood.V97.4.952
[2]
Federici, A.B. and Manuccucci, P.M. (2007) Management of Inhireted von Willebrand Disease in 2007. Annals of Medicine, 39, 346-358. https://doi.org/10.1080/07853890701513738
[3]
Federici, A.B., Mazurier, C., Berntorp, E., Lee, C.A., Scharrer, I., Goudermand, J., et al. (2004) Biologic Response to Decompression in Patients with Severe Type 1 and 2 von Willebrand Disease Results of Multicenter European Study. Blood, 103, 2032-2038. https://doi.org/10.1182/blood-2003-06-2072
[4]
James, A.H. (2005) More than Menorrhagia: A Review of the Obstetric and Gynaecological Manifestation of Bleeding. Haemophilia, 11, 295-307.
[5]
Frederici, A.B., Stabile, F., Castman, G., Canciani, M.T. and Mannuci, P.M. (1998) Treatement of Acquired von Willebrand Syndrme in Patient with Monoclonal Gammapathy of Uncertain Significance: Comparison of Three Different Therapeutic Approaches. Blood, 92, 2707-2711.
[6]
Sadler, J.E., Budde, U., Eikenboom, J.C., Favoloro, E.C., Hili, G.H. and Holmberg, I. (2006) Update on the Pathophysiology and Classification of von Willebrand Disease a Report of the Subcommitee on von Willebrand Factor. Journal of Thrombosis and Haemostasis, 4, 2103-2114.
[7]
Ginsburg, D., Antin, J.H., Smith, B.R., Orkin, S.H. and Rappeport, J.M. (1985) Origin of Cell Population after Bone Marrow Transplantation. Analysis Using DNA Sequence Polymorphisms. Journal of Clinical Investigation, 75, 596-603. https://doi.org/10.1172/JCI111736
[8]
Salder, J.E., Shelton-Inloes, B.B., Sorace, J.M., Harlan, J.M., Titani, K. and Davie, E.W. (1985) Cloning and Caracterization of Two cDNAs Coding for Humain von Willebrand Factor. Proceedings of the National Academy of Sciences of the United States of America, 82, 6394-6398. https://doi.org/10.1073/pnas.82.19.6394
[9]
Ruggeri, Z.M. (2001) Structure of von Willebrand Factor and Its Function in Platelet Adhesion and Thrombus Formation. Best Practice & Research Clinical Haematology, 14, 257-279. https://doi.org/10.1053/beha.2001.0133
[10]
Rodeghiero, F., Castaman, G. and Dini, E. (1987) Epidemiological Investigation of the Prevalence of von Willebrand Disease. Blood, 69, 454-459.
[11]
Werner, E.J., Broxson, E.H., Tucker, E.I., Giroux, D.S., Shults, J. and Abshire, T.C. (1993) Prevalence of von Willebrand Disease in Children: A Multiethnic Study. The Journal of Pediatrics, 123, 893-898. https://doi.org/10.1016/S0022-3476(05)80384-1
[12]
Salder, J.E. (2003) Von Willebrand Disease Type 1: A Diagnosis in Search of a Disease. Blood, 101, 2089-2093. https://doi.org/10.1182/blood-2002-09-2892
[13]
Kouides, P.A. (1998) Females with von Willebrand Disease: 72 Years as the Silent Majority. Haemophilia, 4, 665-676.
[14]
Fressinaud, E. and Von Meyer, D. (2005) Von Willebrand Disease: Biological Diagnosis In: Lee, C., Hoots, K. and Berntorp, E., Eds., Textbook of Hemophilia, Blackwell Publishing, London, 272-278.
[15]
Salder, J.E. (1994) A Revised Classication of von Willebrand Disease. Thromb Haemost, 71, 520-525. https://doi.org/10.1055/s-0038-1642471
