Department of Cardiology, Gifu University Graduate School of Medicine, Gifu, Japan.
Department of Cardiology, Gifu University Graduate School of Medicine, Gifu, Japan.
Cardiovasc Pathol. 2022 Sep-Oct;60:107453. doi: 10.1016/j.carpath.2022.107453. Epub 2022 Jul 15.
Fabry disease is a lysosomal disorder caused by a deficiency in α-galactosidase A. Heterozygous female patients remain free of serious complications, including cardiovascular symptoms, until late in life. This often makes it difficult to decide on the best time to initiate treatment in female patients. Still, it is important to initiate treatment before the disease progresses too far.
We report the case of a 39-year-old asymptomatic female patient with Fabry disease [heterozygous p.Arg301Pro (c.902 G>C) variant in the 6th exon of α-galactosidase A (NM_000169.3)]. After 8 years of follow-up, increased QRS voltage and strain T waves developed in the left precordial electrocardiogram leads in the absence of hypertension, left ventricular hypertrophy or ischemia. Echocardiography, cardiac magnetic resonance, and coronary angiography showed normal findings. Through endomyocardial biopsy, the patient was ultimately diagnosed with early stage cardiac involvement of her Fabry disease, and chaperon therapy was initiated. Follow-up after one year revealed reduction of both the electrocardiogram abnormality and microalbuminuria, suggesting disease progression was halted.
This case highlights importance of prompt diagnosis of asymptomatic Fabry disease through endomyocardial biopsy as well as the potential benefit of chaperon therapy.
法布瑞病是一种溶酶体贮积病，由α-半乳糖苷酶 A 缺乏引起。杂合子女性患者在生命晚期之前不会出现严重并发症，包括心血管症状。这通常使得难以确定在女性患者中何时开始治疗最佳。尽管如此，在疾病进展得太严重之前开始治疗仍然很重要。
我们报告了一例 39 岁无症状的法布瑞病女性患者[杂合子 p.Arg301Pro（NM_000169.3 的第 6 外显子中 α-半乳糖苷酶 A 的 c.902 G>C 变异）]。在 8 年的随访中，在没有高血压、左心室肥厚或缺血的情况下，左胸前导联心电图出现 QRS 电压增高和应变 T 波。超声心动图、心脏磁共振和冠状动脉造影显示正常。通过心肌内膜活检，患者最终被诊断为法布瑞病的早期心脏受累，并开始了伴侣治疗。一年后的随访显示，心电图异常和微量白蛋白尿均减少，表明疾病进展已停止。
本病例强调了通过心肌内膜活检及时诊断无症状法布瑞病的重要性，以及伴侣治疗的潜在益处。
