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2016 ; 127
(20
): 2481-8
Nephropedia Template TP
gab.com Text
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English Wikipedia
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]