Detection of Urinary Mulberry Bodies Leads to Diagnosis of Fabry Cardiomyopathy: A Simple Clue in the Urine Sediment

Fabry disease is an X-linked lysosomal storage disease characterized by globotriaosyceramide accumulation because of genetic loss/deficiency of α-galactosidase A (α-Gal A) activity. Clinical symptoms of classic Fabry disease, such as acroparethesia and neuropathic pain, typically become apparent in childhood and adolescence. Clinical manifestations in adulthood include cardiac and renal diseases, which are the main causes of death. Life expectancy of untreated Fabry males is ≈50 years. Myocardial involvement in Fabry disease is potentially misdiagnosed as hypertrophic cardiomyopathy unless careful workup of the patient, including pathological and genetic tests, is performed. The presence of chronic kidney disease with proteinuria in patients with ventricular hypertrophy leads to further analyses for diagnosis of Fabry disease. Although deterioration of renal function, leading to end-stage renal disease, is a typical manifestation of classical Fabry disease, a cardiac variant of Fabry disease, often accompanied by mild proteinuria, has also been reported. A 52-year-old man with ventricular hypertrophy and a history of acroparethesia during childhood was referred …