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10.1182/blood-2015-10-673681

http://scihub22266oqcxt.onion/10.1182/blood-2015-10-673681
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C4874228!4874228 !26862110
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suck abstract from ncbi


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pmid26862110
      Blood 2016 ; 127 (20 ): 2481-8
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  • Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States #MMPMID26862110
  • Flood VH ; Christopherson PA ; Gill JC ; Friedman KD ; Haberichter SL ; Bellissimo DB ; Udani RA ; Dasgupta M ; Hoffmann RG ; Ragni MV ; Shapiro AD ; Lusher JM ; Lentz SR ; Abshire TC ; Leissinger C ; Hoots WK ; Manco-Johnson MJ ; Gruppo RA ; Boggio LN ; Montgomery KT ; Goodeve AC ; James PD ; Lillicrap D ; Peake IR ; Montgomery RR
  • Blood 2016[May]; 127 (20 ): 2481-8 PMID26862110 show ga
  • von Willebrand disease (VWD) is the most common inherited bleeding disorder, and type 1 VWD is the most common VWD variant. Despite its frequency, diagnosis of type 1 VWD remains the subject of debate. In order to study the spectrum of type 1 VWD in the United States, the Zimmerman Program enrolled 482 subjects with a previous diagnosis of type 1 VWD without stringent laboratory diagnostic criteria. von Willebrand factor (VWF) laboratory testing and full-length VWF gene sequencing was performed for all index cases and healthy control subjects in a central laboratory. Bleeding phenotype was characterized using the International Society on Thrombosis and Haemostasis bleeding assessment tool. At study entry, 64% of subjects had VWF antigen (VWF:Ag) or VWF ristocetin cofactor activity below the lower limit of normal, whereas 36% had normal VWF levels. VWF sequence variations were most frequent in subjects with VWF:Ag <30 IU/dL (82%), whereas subjects with type 1 VWD and VWF:Ag ?30 IU/dL had an intermediate frequency of variants (44%). Subjects whose VWF testing was normal at study entry had a similar rate of sequence variations as the healthy controls (14%). All subjects with severe type 1 VWD and VWF:Ag ?5 IU/dL had an abnormal bleeding score (BS), but otherwise BS did not correlate with VWF:Ag. Subjects with a historical diagnosis of type 1 VWD had similar rates of abnormal BS compared with subjects with low VWF levels at study entry. Type 1 VWD in the United States is highly variable, and bleeding symptoms are frequent in this population.
  • |Adolescent [MESH]
  • |Blood Coagulation Tests [MESH]
  • |Comparative Genomic Hybridization [MESH]
  • |Female [MESH]
  • |Genetic Variation [MESH]
  • |Hemorrhage/etiology [MESH]
  • |Humans [MESH]
  • |Male [MESH]
  • |Phenotype [MESH]
  • |Sequence Analysis, DNA [MESH]
  • |Surveys and Questionnaires [MESH]
  • |United States/epidemiology [MESH]
  • |Young Adult [MESH]
  • |von Willebrand Disease, Type 1/*blood/diagnosis/epidemiology [MESH]


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