A Case Report of Severe Heart Failure with Urinary Mulberry Cells

Introduction: Fabry disease (FD) is an inherited X-linked metabolic storage disorder, leads to a deficiency in α-galactosidase A and massive accumulation of intralysosomal glycosphingolipids. Cardiac complications are the main cause of morbidity. It is difficult to diagnose especially female heterozygous patients, because of later onset and slower progression. Case: A 67-years-old female diagnosed as dilated hypertrophic cardiomyopathy with repeated episodes of heart failure referred to our hospital for further evaluation. She had severe symptoms NYHA Class IV. Echocardiography showed diffuse severe hypokinesis (LVEF = 33%) and moderate mitral regurgitation. Urinary mulberry cells were occasionally found in urine test. She also had proteinuria with chronic kidney disease and cataracts, consistent with the findings of FD. We strongly suspected FD, but α-galactosidase activity was in normal range. Genetic testing was refused. We performed CRT-D implantation; however, her symptoms were worsened. Despite multidisciplinary treatments, she died due to multiple organs dysfunction as a result of end-stage heart failure. Discussion: Urinary mulberry cells are the key findings to suspect FD in this case. In general, enzyme replacement therapy leads to significant clinical benefits in FD. If this case had been diagnosed, appropriate treatment could have been conducted effectively. FD should be considered in patients with unexplained left ventricular hypertrophy even in female patients, and repeated urine tests might be helpful to diagnose it.