Mulberry Bodies: Fabry Disease

A 36-year-old man with lower-extremity edema, chronic proteinuria, and a 20-year history of progressively worsening burning pain in his extremities presented to our outpatient department. His family history included pain of the extremities and chronic proteinuria in his 2 older brothers. Physical examination revealed corneal opacities. Electrocardiogram showed left ventricular hypertrophy. The complete blood examination, including blood chemistry, was unremarkable. However, regular urinalysis tests showed proteinuria and characteristic “mulberry bodies,” consisting of fat with a whorl-like appearance in the urinary sediment (Figure). On the basis of the clinical findings, we made a diagnosis of Fabry disease. Fabry disease is a rare, progressive, genetic, and multisystemic disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase-A. Characteristic symptoms include acroparesthesias, angiokeratomas, hypohidrosis, and corneal and lenticular opacities. However, these symptoms vary widely among individual patients and can be confused with other disorders, with the median age at definitive diagnosis reported to be 28.6 years. The presence of mulberry bodies in the urine would be useful for early detection of this disease. Induction of enzyme replacement therapy with agalsidase alfa or beta is the current standard of therapy. Thus, early identification of Fabry disease can reduce serious complications, including stroke, cardiac hypertrophy, congestive heart failure, and renal failure. Untreated Fabry disease has progressive, irreversible consequences and finally results indeath. Therefore, when the characteristic symptoms withfindings of mulberry bodies are present, clinicians should consider Fabry disease in the possible differential diagnosis.