Low vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown cause.

ABSTRACT:

Introduction

Bleeding disorder of unknown cause (BDUC) is a challenging diagnosis that predominantly affects women. Previous investigations into connective tissue disorders (CTD) and vitamin C have not been conducted.

Aim

To examine the association between hypermobility-related disorders, vitamin C status and BDUC.

Methods

Patients were selected following laboratory and genetic screening that yielded negative results for known hemostasis disorders. Sixty patients with BDUC and an ISTH BAT score ≥ 10 underwent clinically examination for skin hyperextensibility and for hypermobility assessed by Beighton score. Vitamin C was analyzed by high-performance liquid chromatography. Genetic screening for causal variants in 42 CTD genes was performed.

Results

The majority

SUBMITTER: Leinoe E 

PROVIDER: S-EPMC11659505 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature