摘要
本文报道1例以腹水为首发表现,后诊断为心脏孤立受累型家族性法布雷病患者.该患者因腹胀、心源性腹水反复就诊于各大医院,心力衰竭病因无法明确,长期利尿、多次行腹腔穿刺引流等治疗,患者腹胀缓解期进行性缩短.近期患者因腹胀进行性加重,影像学提示腹腔积液在短期内显著增加而就诊.入院后完善心脏磁共振、法布雷基因筛查、a-Gal A酶活性等检查,确诊为法布雷心肌病,并予以酶替代治疗,腹胀控制良好.心脏变异型法布雷病临床上十分罕见,以体循环淤血为主要及首发表现的法布雷心肌病更是鲜有报道.该病例警示,在临床上出现不明原因右心衰竭或限制性心肌病时,应考虑进行法布雷病筛查,以尽早启动特异性治疗.
Abstract
This article reports a rare case of Fabry disease with isolated cardiac involvement that presented ini-tially with abdominal fluid accumulation.The patient had been repeatedly hospitalized for abdominal distension and had undergone various examinations,with suspected cardiac ascites due to heart failure as the underlying cause.Despite prolonged use of diuretics and multiple abdominal paracentesis procedures,relief was only tempora-ry and the symptoms worsened over time.The patient was eventually diagnosed with Fabry cardiomyopathy based on enhanced cardiac computed tomography,Fabry gene screening,and α-Gal A enzyme activity analysis,and was treated with enzyme replacement therapy.It is notable that Fabry disease primarily presenting with systemic con-gestion or abdominal symptoms is extremely rare.This case highlights the importance of considering Fabry dis-ease screening in patients who present with unexplained right heart failure or restrictive cardiomyopathy,and initi-ating specific treatment as early as possible.
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