Diagnosis of von Willebrand disease in Western Mexico.
Haemophilia
; 27(1): e78-e87, 2021 Jan.
Article
em En
| MEDLINE
| ID: mdl-33215800
INTRODUCTION: Von Willebrand disease (VWD) is the most common inherited bleeding disorder with a prevalence of 0.1%, characterised by quantitative or functional deficiency of von Willebrand factor (VWF). VWD diagnosis is based on symptomology, biochemical and genetic tests, but limited laboratory resources and VWD heterogeneity still generate an important subdiagnosis gap worldwide and in our country. AIM: To identify the type and subtype of VWD in a cohort of patients with a history of excessive bleeding in Western Mexico. METHODS: This prospective cohort study from 2012 to 2019 included patients with mucocutaneous bleeding or abnormal laboratory tests. A standardised questionnaire and confirmatory tests were applied: FVIII:C, VWF activity, VWF antigen, and VWF multimeric analysis. RESULTS: Of the 297 patients recruited, 207 (69.7%) were excluded because their values exceeded 50% in VWF activity and VWF antigen. Of those 90 remaining, 54 (18.2%) had low VWF, and only 36 patients (12.1%) were diagnosed with VWD. Among them, 17 (47.2%) had quantitative deficiencies, of whom 14 were assigned as type 1 and 3 as type 3.The remaining 19 cases were diagnosed as type 2 (52.8%): type 2A and 2B were the most frequent with 6 and 7 cases respectively; 4 cases were possible type 2M and two suggestive of 2N, however, this was not confirmed. CONCLUSION: This study highlights the challenges of VWD diagnosis using a comprehensive panel of diagnostic tests which should extend to supplemental tests of VWF:CB, VWF:FVIIIB, and sequencing the VWD gene to confirm the results from the panel assays.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças de von Willebrand
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Humans
País/Região como assunto:
Mexico
Idioma:
En
Revista:
Haemophilia
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2021
Tipo de documento:
Article
País de publicação:
Reino Unido