Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro‐Caribbeans: Results From a Study in Martinique Island, French West Indies
Year: 2025
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Several cohort studies have investigated the molecular basis of von Willebrand disease (VWD); very few have focused on the Afro-Caribbean population. OBJECTIVES: To determine the genotypic and phenotypic characterization of VWD in a large cohort of Afro-Caribbean patients living in Martinique. MATERIALS AND METHODS: A total of 31 families comprising 63 Afro-Caribbean patients with VWD were enrolled. A standardized questionnaire and blood samples were collected for biological and molecular genetic analyses of von Willebrand factor (VWF). The impact of new missense variants has been predicted by in silico studies. RESULTS: The median age of patients was 53 years (range 9-99). The most frequent symptoms were menorrhagia (49%), easy bruising (44%) and prolonged bleeding after tooth extraction (42%). Fifteen patients (24%) had quantitative deficiencies of VWF, of whom 13 (21%) were assigned as VWD-type 1, 1 (1%) as VWD-type 1C and 1 (2%) as VWD-type 3. Forty-five patients were diagnosed with VWD-type 2 (qualitative defects of VWF) (71%). VWD-type 2A was the most frequent, with 36 patients. Seven patients had VWD-type 2M and two patients had VWD-type 2B. Three patients (5%) had an indeterminate effect of the VWF defect due to ISTH BAT at 0. Forty-eight different VWF variants, including 4 novel variants, were identified in 63 patients. The variants consisted of 34 (71%) missense, 7 (15%) synonymous, 3 (6%) frameshifts, 2 (4%) small deletions and 2 (4%) gene conversions. CONCLUSIONS: This study emphasizes the unique distribution of genotypes in our cohort of Afro-Caribbean VWD patients living in Martinique. ESSENTIALS: Genotype-phenotype correlation was assessed in VWD Afro-Caribbean patients with one or more VWF variants. Menorrhagia, easy bruising and prolonged bleeding after tooth extraction are common in VWD patients. Efforts to increase the awareness and diagnosis of VWD have contributed to a better identification of patients with bleeding disorders.
Source: Haemophilia
DOI: 10.1111/hae.70003
Authors: Marie‐Daniéla Dubois, Olivier Nicolas Pierre‐Louis, Serge Pierre‐Louis, Pierre Boisseau, Cécile V. Denis, Annabelle Dupont, Jenny Goudemand, Caterina Casari, Emmanuelle Jeanpierre, Christophe Zawadzki, Béatrice Ferrey, Johalène Rabout, Pascal Fuseau, Emelyne Chonville, Franck Michel, Marie‐Nadiège Yerro, Yves Gruel, Olivier Christophe, Peter J. Lenting, Eustase Janky, Sophie Susen, Rémi Neviere
Institutions: Centre Hospitalier Universitaire de Martinique, Centre Hospitalier Universitaire de Nantes, Inserm, Université Paris-Saclay, Hemostase Inflammation Thrombosis, Université de Lille, Institut Pasteur de Lille, Centre Hospitalier Universitaire de Lille, Centre Hospitalier Universitaire de Tours, Centre Hospitalier Universitaire Pointe-à-Pitre
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,760
OpenAlex ID: W4408771983