Lenders Malte, Nowak Albina, Cybulla Markus, Kaufeld Jessica, Köhn Anja Friederike, Muschol Nicole Maria, Kurschat Christine, Brand Eva
Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Muenster, Germany.
Department of Endocrinology and Clinical Nutrition, University Hospital Zuerich and University of Zuerich, Zuerich, Switzerland.
Orphanet J Rare Dis. 2024 Dec 27;19(1):490. doi: 10.1186/s13023-024-03503-4.
The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.
Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41). Clinical presentation and laboratory data, including plasma globotriaosylsphingosine (lyso-Gb) levels were assessed. The observation time ranged from 49 to 62 months. ∼90% of female patients treated with ERT presented with at least one organ manifestation justifying treatment according to current European guidelines. Untreated females showed a less severe disease load with less FD-typical organ damage. All groups presented with a stable cardiac status (all p > 0.05) over time. ERT-treated females presented with a slight yearly loss of estimated glomerular filtration (eGFR) over time (both p < 0.05), which was comparable to the natural decline for this age. Plasma lyso-Gb levels were higher in ERT-treated females and decreased by 0.95 [-4.44 to 4.08] ng/ml/year (p = 0.0002) in those who were newly ERT-treated.
Severely affected females with FD who were treated with ERT, and less severely affected untreated females, showed a broadly stable disease course over 5 years. The treatment decisions were largely based on the European guidelines for FD. In untreated females, it is crucial to explore if organ involvement is FD-related in order to make the correct treatment decision.
我们的多中心研究旨在调查欧洲法布里病治疗指南在女性法布里病（FD）患者中的实施情况，并分析酶替代疗法（ERT）对接受治疗和未接受治疗的女性患者的影响。
对来自6个法布里病中心的159例女性FD患者连续3次就诊的数据进行了回顾性分析。根据治疗情况，患者被分为3组（未治疗组，n = 71；新接受ERT治疗组，n = 47；长期接受ERT治疗组，n = 41）。评估了临床表现和实验室数据，包括血浆球三糖神经酰胺（溶酶体Gb）水平。观察时间为49至62个月。约90%接受ERT治疗的女性患者至少有一处器官表现，根据当前欧洲指南有理由进行治疗。未治疗的女性疾病负担较轻，FD典型器官损伤较少。所有组随时间推移心脏状态均保持稳定（所有p > 0.05）。接受ERT治疗的女性随时间推移估计肾小球滤过率（eGFR）每年略有下降（两者p < 0.05），这与该年龄的自然下降情况相当。接受ERT治疗的女性血浆溶酶体Gb水平较高，新接受ERT治疗的女性血浆溶酶体Gb水平每年下降0.95 [-4.44至4.08] ng/ml（p = 0.0002）。
接受ERT治疗的严重受影响的FD女性和未接受治疗的受影响较轻的女性在5年中疾病进程大致稳定。治疗决策在很大程度上基于欧洲FD指南。对于未治疗的女性，至关重要的是探索器官受累是否与FD相关，以便做出正确的治疗决策。
