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2020년 제 71차 대한내과학회 추계학술대회
￭S-215 ￭ A case of Fabry Cardiomyopathy refractory to Enzyme Replacement Therapy
을지대학교병원 내과
김동규, 박상현, 정경태, 최유정, 김원호, 진정연
Introduction: Fabry disease is an X-linked lysosomal storage disease caused by deficient activity of the lysosomal hydrolase α -galactosidase A encoded by the gene GLA. Absent or reduced α-gal A enzyme activity leads to the progressive accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3) in a variety of cell types, and result in multi-system disease. The cardiovascular involvement in Fabry disease is progressive, and accounts for one of the major reasons for abbreviated life expectancy and increased morbidity.
Case Report: A 56-year-old male was referred in order to identify Fabry disease after his older brother was confirmed as Fabry disease of cardiac variant type. He had been treated with hypertrophic cardiomyopathy (HCMP) for five years. A 12-leads electrocardiogram revealed normal sinus rhythm with severe left ventricular hypertrophy (LVH) and strain pattern. (Figure 1). Echocardiography revealed diffuse severe concentric hypertrophy of the left ventricle (LV) of an average ventricular wall thickness of 17 mm with normal systolic function . Right ventricle (RV) was also hypertrophied (RV free wall thickness, 7mm).(Figure 2) Cardiac magnetic resonance imaging reveals diffuse LV and RV hypertrophy. Delayed hyper-enhancement (DHE) was not found within entire myocardium.(Figure 3) He received enzyme replacement therapy (ERT) with intravenous agalsidase-beta every other week via outpatient department for 3 years.
Dispite regularly ERT, Focal intramural and subepicardial DHE was newly developed at LV basal lateral and septal wall compared with previous study on cardiac MRI.(Figure 4)
Discussion: Fabry disease of cardiac variant type can be delayed in diagnostic aspect because of absence of typical symptoms and signs. Despite the absence of neutralizing antibody, ERT did not prevent both further myocardial hypertrophy and myocardial fibrosis in patient with advanced myocardial hypertrophy caused by delayed diagnosis of Fabry disease.
