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Requests for reprints should be addressed to Ryohei Ono, MD, Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670, Japan.
A 73-year-old man presented with dyspnea on exertion. Physical examination showed
mild peripheral edema without chest murmur or crackles. An electrocardiogram showed
sinus rhythm with complete right bundle branch block. Moreover, transthoracic echocardiography
demonstrated remarkable left ventricular hypertrophy with preserved ejection fraction.
Laboratory findings revealed elevation of serum creatinine, troponin I, and brain
natriuretic peptide. Of note, regular urinalysis tests showed proteinuria and “mulberry
body,” consisting of fat with a whorl-like appearance in the urinary sediment (Figure). Further investigations revealed decreased level of the α-galactosidase activity
and identification of IVS4+919G>A mutation, which confirmed the definitive diagnosis
of Fabry disease. After initiation of diuretics and enzyme replacement therapy with
agalsidase α, his dyspnea resolved. At follow-up 4 years after presentation, he was
doing well and had no further cardiac symptoms.
FigureMulberry body consisting of fat with a whorl-like appearance in the urinary sediment
(arrow).
