Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.

ABSTRACT:

Background

In 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.

Methods

Forty-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.

Results

Candidate variants in HDCT-related genes were identified in 47% of cases, predominantly in genes ass

SUBMITTER: Bandini P 

PROVIDER: S-EPMC12904184 | biostudies-literature | 2026 Jan-Feb

REPOSITORIES: biostudies-literature