Mulberry Body

Published:November 06, 2022DOI:
      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).
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to The American Journal of Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Germain DP
        Fabry disease.
        Orphanet J Rare Dis. 2010; 5: 30
        • Shimohata H
        • Ogawa Y
        • Maruyama H
        • et al.
        A renal variant of Fabry disease diagnosed by the presence of urinary mulberry cells.
        Intern Med. 2016; 55: 3475-3478
        • Sawada T
        • Kido J
        • Yoshida S
        • et al.
        Newborn screening for Fabry disease in the western region of Japan.
        Mol Genet Metab Rep. 2020; 22100562
        • Zarate YA
        • Hopkin RJ
        Fabry's disease.
        Lancet. 2008; 372: 1427-1435
        • Selvarajah M
        • Nicholls K
        • Hewitson TD
        • Becker GJ
        Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique.
        Nephrol Dial Transplant. 2011; 26: 3195-3202