ArticleHaemophilia : the official journal of the World Federation of Hemophilia
Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.
Article in Haemophilia : the official journal of the World Federation of Hemophilia. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.Haemophilia : the official journal of the World Federation of HemophiliaArticle
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Authors and funding
12 authors.
Funding
Abstract
backgroundIn patients with unexplained bleeding and normal haemostatic parameters, heritable disorders of connective tissue (HDCT) may be an underlying cause due to vascular fragility, as observed in Ehlers-Danlos syndrome (EDS) or Marfan syndrome (MS). This study aims to investigate the molecular profile of patients with joint hypermobility (JH) and unexplained bleeding and to establish genotype-phenotype associations.
methodsForty-three female patients with JH and bleeding symptoms were recruited from the haemophilia unit and rehabilitation service at Vall d'Hebron University Hospital. Whole-exome sequencing (WES) was performed to identify genetic variants.
resultsCandidate variants in HDCT-related genes were identified in 47% of cases, predominantly in genes associated with EDS and MS. A complete genotype-phenotype concordance was established in 37%, emphasizing the importance of assessing JH in patients presenting with unexplained bleeding.
conclusionThe results underscore the need for systematic assessment of JH in patients with bleeding and normal haemostatic tests, as well as for bleeding evaluation in those showing HDCT signs. WES proved valuable in identifying genetic contributors to these complex phenotypes, supporting a multidisciplinary approach to achieve accurate diagnosis and improved patient care.
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