Tuttolomondo Antonino, Chimenti Cristina, Cianci Vittoria, Gallieni Maurizio, Lanzillo Chiara, La Russa Antonella, Limongelli Giuseppe, Mignani Renzo, Olivotto Iacopo, Pieruzzi Federico, Pisani Antonio
Department of Internal Medicine and Stroke Care, University Policlinico Hospital of Palermo, and ProMISE Department, University of Palermo, Palermo, Italy.
Department of Clinical, Internal, Anesthetic and Cardiovascular Sciences, La Sapienza University of Rome, Rome, Italy.
Front Cardiovasc Med. 2025 Mar 12;12:1536114. doi: 10.3389/fcvm.2025.1536114. eCollection 2025.
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment. A survey was conducted at nine Italian FD centers to evaluate routine management of females with FD; results were discussed at a meeting of eleven Italian specialists and recommendations developed. Of the 227 females managed by the physicians surveyed, 85% were diagnosed through family screening and 38.5% were symptomatic at presentation. Female patients usually underwent cardiac, renal, and neurologic monitoring, and measurement of plasma lyso-globotriaosylsphingosine (Gb3) levels at 6- or 12-month intervals. Treatment was initiated in 54%, mostly enzyme replacement therapy. Experts recommended screening all female relatives of index cases and evaluating all potentially affected organ systems. Diagnosis should be based on genetic analysis. Individualized monitoring of asymptomatic females must balance the need to detect organ damage while maintaining adherence. Treatment decisions should be based primarily on signs/symptoms of FD, but age, family screening results, mutations, Gb3/lyso-Gb3 accumulation, and organ damage should be considered in asymptomatic females. More research on FD in females is needed and physicians should be aware of differences in the diagnosis, monitoring, and management of females vs. males with FD.
与男性相比，患有法布里病（FD）的女性通常具有较轻的表型、较晚的症状发作和较慢的疾病进展，这导致诊断延迟和治疗不足。在意大利的九个法布里病中心进行了一项调查，以评估女性法布里病患者的常规管理情况；调查结果在一次由11名意大利专家参加的会议上进行了讨论，并制定了相关建议。在接受调查的医生所管理的227名女性患者中，85%是通过家族筛查确诊的，38.5%在就诊时出现症状。女性患者通常每隔6个月或12个月接受心脏、肾脏和神经系统监测以及血浆溶酶体球三糖基鞘氨醇（Gb3）水平检测。54%的患者开始接受治疗，主要是酶替代疗法。专家建议对索引病例的所有女性亲属进行筛查，并评估所有可能受影响的器官系统。诊断应基于基因分析。对无症状女性进行个体化监测时，必须在检测器官损伤的需求与维持依从性之间取得平衡。治疗决策应主要基于法布里病的体征/症状，但对于无症状女性，还应考虑年龄、家族筛查结果、突变、Gb3/溶酶体Gb3蓄积以及器官损伤情况。需要对女性法布里病进行更多研究，医生应了解女性与男性法布里病患者在诊断、监测和管理方面的差异。
