Internal Medicine Department, Complejo Hospitalario y Universitario de Albacete, Castilla-La Mancha University, Albacete, Spain.
Neurology Department, Hospital Josep Trueta de Girona, IDIBGI, Girona, Spain.
Med Clin (Barc). 2019 Jul 19;153(2):47-55. doi: 10.1016/j.medcli.2018.10.039. Epub 2019 Jan 15.
Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme. Although women were historically considered only carriers, many studies have contradicted this fact. The main aim of this work was to set the first Spanish study out of the on-going registries on health status and management of women diagnosed with FD who were not receiving enzyme replacement therapy (ERT).
An epidemiological, cross-sectional, descriptive and multicentre study was assessed in women diagnosed for FD who were not receiving ERT. Assessments on symptomatology and severity were collected using several clinical questionnaires. Additionally, clinical information and lab tests were obtained from clinical records.
Thirty-three women with a mean age of 45.6±16.2 years were studied. Symptom onset was at a median age of 35.5 years old (range: 30.0-51.5), being diagnosed a median of 2 years later (range: 1.0-1.5). Missense mutations were the most prevalent mutation (n=22, 68.8%). Although 69% considered themselves as asymptomatic, 22 (66.7%) showed at least one FD-related clinical symptom. Using Mainz Severity Score index and Fabry International Prognosis Index neurological symptomatology obtained higher scores both for severity and prognostic. The EQ-5D questionnaire showed 42.2% patients referring to some anxiety or depression, and 30.3% thought that their life was somehow altered by the pain. 62.5% were not receiving any treatment and ERT was offered only to one patient (3.6%) who refused it.
Although most of the heterozygous women for FD had not received ERT or either symptomatic treatment, they present symptoms of disease. Careful follow-up of female patients or some adjuvant treatment may be considered to delay progressive organ damage and improve patient quality of life.
法布瑞病（FD）是一种 X 连锁溶酶体贮积症，由于α-半乳糖苷酶 A 酶的缺乏。尽管女性在历史上仅被认为是携带者，但许多研究反驳了这一事实。这项工作的主要目的是开展第一项西班牙研究，该研究针对未接受酶替代疗法（ERT）的诊断为 FD 的女性的健康状况和管理。
评估了未接受 ERT 的 FD 女性患者的流行病学、横断面、描述性和多中心研究。使用多种临床问卷收集症状和严重程度的评估。此外，从临床记录中获得了临床信息和实验室检查。
研究了 33 名平均年龄为 45.6±16.2 岁的女性。症状发作的中位数年龄为 35.5 岁（范围：30.0-51.5），诊断中位数为 2 年后（范围：1.0-1.5）。错义突变是最常见的突变（n=22，68.8%）。尽管 69%的患者认为自己无症状，但 22 名（66.7%）患者出现了至少一种 FD 相关的临床症状。使用 Mainz 严重程度评分指数和 Fabry 国际预后指数，神经症状学获得了更高的严重程度和预后评分。EQ-5D 问卷显示，42.2%的患者有一定程度的焦虑或抑郁，30.3%的患者认为疼痛在某种程度上改变了他们的生活。62.5%的患者未接受任何治疗，仅向一名患者（3.6%）提供了 ERT，但该患者拒绝接受。
尽管大多数 FD 的杂合女性未接受 ERT 或症状治疗，但她们都出现了疾病症状。可能需要对女性患者进行仔细的随访或给予一些辅助治疗，以延缓进行性器官损伤并提高患者的生活质量。
