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

IF 3 2区医学 Q2 HEMATOLOGY

Haemophilia Pub Date : 2024-09-23 DOI:10.1111/hae.15099

Eva Leinøe, Halla Fridriksdottir, Andreas Ørslev Rasmussen, Eva Funding, Anne Louise Tølbøll Sørensen, Peter Kampmann, Jens Lykkesfeldt, Maria Rossing

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引用次数: 0

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 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).

Conclusion: Our 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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原因不明的出血性疾病患者的低维生素 C 状态和高运动能力相关疾病。

导言：原因不明的出血障碍（BDUC）是一种具有挑战性的诊断，主要影响女性。目的：研究高运动相关疾病、维生素 C 状态与 BDUC 之间的关联：方法：在实验室和基因筛查结果为阴性的已知止血障碍患者中挑选患者。60名患有BDUC且ISTH BAT评分≥10分的患者接受了皮肤过度伸展性和Beighton评分评估的过度运动性的临床检查。维生素 C 采用高效液相色谱法进行分析。对42个CTD基因的因果变异进行了遗传学筛查：大多数患者为女性（56/60）。ISTH BAT评分中位数为13分（10-23分不等）。29/60例患者的Beighton评分为阳性，而健康对照组（HC）为1/20（P 结论：我们的研究表明，BDUC是一种多发性疾病：我们的研究表明，BDUC 经常与过度活动障碍和维生素 C 缺乏有关。我们的研究结果可为对 BDUC 患者进行维生素 C 补充的随机研究铺平道路。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Haemophilia 医学-血液学

CiteScore

6.50

自引率

28.20%

发文量

226

审稿时长

3-6 weeks

期刊介绍： Haemophilia is an international journal dedicated to the exchange of information regarding the comprehensive care of haemophilia. The Journal contains review articles, original scientific papers and case reports related to haemophilia care, with frequent supplements. Subjects covered include: clotting factor deficiencies, both inherited and acquired: haemophilia A, B, von Willebrand''s disease, deficiencies of factor V, VII, X and XI replacement therapy for clotting factor deficiencies component therapy in the developing world transfusion transmitted disease haemophilia care and paediatrics, orthopaedics, gynaecology and obstetrics nursing laboratory diagnosis carrier detection psycho-social concerns economic issues audit inherited platelet disorders.