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von Willebrand disease in Sweden: demography and treatment
Author(s) -
Tengborn L.
Publication year - 1999
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1046/j.1365-2516.1999.0050s2075.x
Subject(s) - desmopressin , von willebrand disease , medicine , von willebrand factor , proband , tranexamic acid , disease , coagulation , pediatrics , allele , coagulopathy , genetics , mutation , surgery , platelet , blood loss , gene , biology
Registration of patient with von Willebrand disease in Sweden is ongoing but far from completed. Forty‐seven patients with type 3 are diagnosed with coagulation assays. DNA studies performed at Karolinska Institute have shown that 21 type 3 probands were homozygous with the same mutation on the 2 alleles. If considering von Willebrand disease inherited as an autosomal dominant trait the number of heterozygous is calculated to 27 000. However, the mode of inheritance is not yet settled. Treatment with desmopressin+tranexamic acid in type 1 is highly efficient, as is the blood factor concentrate Haemate® (Centeon) in patients with type 3. Treatment in patients with type 2 must be individualized and is dependent on the response to desmopressin.