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Diagnosis of von Willebrand disease in Western Mexico.
Zavelia Padilla-Romo, María Guadalupe; Ornelas-Ricardo, Diana; Luna-Záizar, Hilda; Rebeca Jaloma-Cruz, Ana.
Afiliação
  • Zavelia Padilla-Romo MG; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
  • Ornelas-Ricardo D; Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México.
  • Luna-Záizar H; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
  • Rebeca Jaloma-Cruz A; Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México.
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças de von Willebrand Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / 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
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças de von Willebrand Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / 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