Genetics of von Willebrand disease type 1.
The most common form of von Willebrand disease (VWD) is reported to be type 1, accounting for as much as 80% of reported cases. With prevalence estimates as high as 1.6% in the general population, upwards of 4.5 million Americans may be affected. Unfortunately, VWD type 1 is also the most difficult type to diagnose. Despite the continuing progress in defining the genetic lesions responsible for VWD types 2 and 3, identification of the genetic determinants of VWD type 1 remains elusive. Herein the phenomenon known as VWD is summarized, the challenges associated with the diagnosis of type 1 VWD are described, and the role of genetic research in meeting these challenges is explored. The authors identify key gaps in the current genetics literature and suggest new avenues for future research. Lastly, they explore the role of nurses in this research and clinical endeavor. To the authors'knowledge, this review is the first to address these complex issues in nursing research.
Riddel
James P
JP
Division of Hematology, Children's Hospital Oakland, Oakland, CA 94609, USA. jriddel@mail.cho.org
Aouizerat
Bradley E
BE
D018740:Genetic Heterogeneity; D008040:Genetic Linkage / Q000235:genetics; D036281:Genetic Research; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D008967:Molecular Biology; D024802:Nurse's Role; D010375:Pedigree; D010641:Phenotype; D015995:Prevalence; D014481:United States / Q000453:epidemiology; D014842:von Willebrand Diseases / Q000145:classification* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics / Q000502:physiology
D014841:von Willebrand Factor