ArticleHaemophilia : the official journal of the World Federation of Hemophilia2024
Low vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown cause.
Article in Haemophilia : the official journal of the World Federation of Hemophilia, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Unexplained bleeding tendency and scleroderma-like skin changes: a diagnostic journey to vitamin C deficiency.Research and practice in thrombosis and haemostasis · 2026Article
- Biomarkers of Coagulation Disorders-Where to from Here?Biomolecules · 2026Review
- Dental surgery for patients with bleeding disorder of unknown cause.British dental journal · 2025Review
- Low vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown cause.Haemophilia : the official journal of the World Federation of Hemophilia · 2024Article
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Authors and funding
8 authors.
Funding
Abstract
introductionBleeding 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.
aimTo examine the association between hypermobility-related disorders, vitamin C status and BDUC.
methodsPatients 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.
resultsThe majority of patients were female (56/60). Median ISTH BAT score was 13 (range 10-23). Beighton score was positive in 29/60 patients compared to 1/20 healthy controls (HC) (p < .001). Hyperextensive skin was observed in (18/60) patients, and none (0/20) of the HC (p = .0041). Ten patients met the clinical diagnostic criteria for hypermobile Ehlers-Danlos syndrome (hEDS), and one patient was diagnosed with Noonan syndrome. Genetic screening excluded various subtypes of EDS with known genetic backgrounds. Average vitamin C level was adequate, but lower than in HC (55.9 vs. 70.4 μmol/L; p = .001). Suboptimal, or low vitamin C were identified in 19/60 compared to 1/20 HC (p = .018).
conclusionOur study demonstrates that BDUC is frequently associated with hypermobility disorders and low vitamin C status. Our results could pave the way for a randomized study of vitamin C supplementation in patients with BDUC.
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