Late-onset Fabry Disease Diagnosed by the Detection of Urinary Mulberry Cells during Medical Check-up

Abstract

  We report a case of late-onset Fabry disease diagnosed by the detection of urinary mulberry cells during a medical check-up. A Japanese male patient in his mid-50s had been treated for hypertension since his late 40s. His electrocardiogram in a medical check-up showed a typical pattern of left ventricular hypertrophy. Based on the echocardiogram findings in our hospital, he was considered to have asymptomatic hypertrophic cardiomyopathy. In the next year’s check-up, mulberry cells were observed in his urine sediment. Since he was suspected to have Fabry disease, he underwent detailed examinations by a cardiologist. He had low alpha- galactosidase activity in the leucocytes. The gene mutation analysis identified the p.N215S missense mutation, which is a well-known lesion of “cardiac variants”; therefore, he was diagnosed with late-onset Fabry disease.

  Late-onset Fabry disease is a disease with progressive left ventricular hypertrophy, and its prognosis depends on heart failure and fatal arrhythmia. Enzyme replacement therapy has been recognized as an effective treatment for Fabry disease in recent years; however, an early definitive diagnosis is crucial. In cases where a medical check-up presents with left ventricular hypertrophy, such patients may potentially have late-onset Fabry disease. We suggest that urinary mulberry bodies and cells should be helpful in confirming the diagnosis of this disease.