法布里病在慢性疼痛患者中的患病率:从 DOUFAB 和 DOUFABIS 研究中汲取的教训。

IF 3.5 2区 医学 Q1 ANESTHESIOLOGY European Journal of Pain Pub Date : 2024-08-04 DOI:10.1002/ejp.4708
Chloé Angelini, Claire Bar, Marie Pierre Baudier, Patricia Fergelot, Gwenaëlle Lancelot, Caroline Rooryck, Dominique P Germain, Firas Jabbour, Anne-Sophie Blanchet, Alexandre Cauchie, Elisabeth Sarrazin, Rémi Bellance, Jean-Pascal Lefaucheur, Julie Bismuth, Stéphanie Ranque-Garnier, Virginie Corand, Isabelle Coupry, Cyril Goizet
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摘要

背景:法布里病(FD)是一种罕见的 X 连锁溶酶体疾病,由 GLA 基因的致病变异引起α-半乳糖苷酶缺乏症。发病年龄变化很大,临床表现广泛,包括肾脏、心脏、皮肤和神经系统的常见表现。由于疼痛可能是潜在 FD 的一个指标,我们希望估算慢性疼痛患者中 FD 的患病率:方法:在慢性疼痛专家中心开展了两项研究(DOUFAB 和 DOUFABIS),通过测量男性α-半乳糖苷酶 A 的活性和分析女性 GLA 基因来评估 FD 的患病率:对 893 名患者(主要是成年人)进行分析后,确诊一名女性患者患有 FD,目前正在接受酶替代疗法:据估计,在我国患有各种慢性疼痛的男性和女性人群中,FD 的发病率约为 1/1000。结论:在我们的人群中,患有各种慢性疼痛的男性和女性的发病率估计约为 1/1000,这与之前在其他肾衰竭高危人群中观察到的 FD 发病率相近:尽管在成人不明原因的慢性疼痛中系统搜索 FD 似乎并不相关,但如果有阳性的 FD 家族史或存在与 FD 相关的其他器官特征,则必须考虑这种罕见疾病的诊断。因此,疼痛专家需要了解 FD 的主要特征,包括疼痛特征。
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Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

Background: Fabry disease (FD) is a rare X-linked lysosomal disorder caused by alpha-galactosidase deficiency consecutive to a pathogenic variant in the GLA gene. Age at onset is highly variable, with a wide clinical spectrum including frequent renal, cardiac, skin and nervous system manifestations. Since pain can be an indicator of underlying FD, we wanted to estimate the prevalence of FD in a population of chronic pain patients.

Methods: Two studies, DOUFAB and DOUFABIS, were carried out in expert centers for chronic pain to assess the prevalence of FD by measuring alpha galactosidase A activity in men and analysing the GLA gene in women.

Results: Analysis of 893 patients, essentially adults, led to the diagnosis of FD in one female patient, now treated with enzyme replacement therapy.

Conclusions: The prevalence of FD is estimated about 1/1000 in our population of men and women suffering from various chronic pain. This is nearly the prevalence of FD observed in other previously screened high-risk populations with renal failure.

Significance: Although a systematic search for FD does not seem relevant in the context of unexplained chronic pain in adults, a positive family history of FD or the presence of additional FD related organ features must lead to consider this rare disease diagnosis. Therefore, pain specialists need to be aware of main features of FD, including pain characteristics.

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来源期刊
European Journal of Pain
European Journal of Pain 医学-临床神经学
CiteScore
7.50
自引率
5.60%
发文量
163
审稿时长
4-8 weeks
期刊介绍: European Journal of Pain (EJP) publishes clinical and basic science research papers relevant to all aspects of pain and its management, including specialties such as anaesthesia, dentistry, neurology and neurosurgery, orthopaedics, palliative care, pharmacology, physiology, psychiatry, psychology and rehabilitation; socio-economic aspects of pain are also covered. Regular sections in the journal are as follows: • Editorials and Commentaries • Position Papers and Guidelines • Reviews • Original Articles • Letters • Bookshelf The journal particularly welcomes clinical trials, which are published on an occasional basis. Research articles are published under the following subject headings: • Neurobiology • Neurology • Experimental Pharmacology • Clinical Pharmacology • Psychology • Behavioural Therapy • Epidemiology • Cancer Pain • Acute Pain • Clinical Trials.
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