Ying Qisu, Yang Xiu, Zhao Ning, Wang Ming, Wu Yu, Shi Xuexue, Shen Jie, Zhao Min, Wang Wenjun, Qian Yingying, Chen Qi, Mao Yong
Department of Nephrology, Hangzhou First People's Hospital, Hangzhou, Zhejiang, China.
Department of Nephrology, Hangzhou First People's Hospital Chengbei Campus, Hangzhou Geriatric Hospital, Hangzhou, Zhejiang, China.
Orphanet J Rare Dis. 2025 Jun 3;20(1):271. doi: 10.1186/s13023-025-03791-4.
Late-onset cardiac manifestations of Fabry disease are frequently associated with high rates of missed diagnoses and misdiagnoses. We present a case of a 71-year-old male with late-onset Fabry disease whose diagnosis was delayed due to the absence of typical symptoms. The patient has a history of nephrotic syndrome and is currently suffering from end-stage renal disease (ESRD), undergoing maintenance hemodialysis. He was previously diagnosed with diffuse left ventricular hypertrophy and heart block. Upon admission, cardiac examination revealed reduced longitudinal strain of the left ventricle. Fabry disease was suspected due to recurrent heart failure, persistent slight elevation in troponin I (TNI) levels, recurrent syncope, and hearing loss. Subsequent measurement of α-galactosidase A activity and genetic testing confirmed the diagnosis. This case highlights the importance of considering Fabry disease in patients with renal failure, recurrent heart failure, persistent slight elevation in TNI levels, and bilateral interventricular septum syndrome.
法布里病的迟发性心脏表现常常与高漏诊率和误诊率相关。我们报告一例71岁迟发性法布里病男性患者，其诊断因缺乏典型症状而延迟。该患者有肾病综合征病史，目前患有终末期肾病（ESRD），正在接受维持性血液透析。他此前被诊断为弥漫性左心室肥厚和心脏传导阻滞。入院时，心脏检查显示左心室纵向应变降低。由于反复心力衰竭、肌钙蛋白I（TNI）水平持续轻微升高、反复晕厥和听力丧失，怀疑为法布里病。随后测定α-半乳糖苷酶A活性并进行基因检测确诊。该病例强调了在肾衰竭、反复心力衰竭、TNI水平持续轻微升高和双侧室间隔综合征患者中考虑法布里病的重要性。
