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Diagnose This (July 25, 2022)

Clarissa Cassol, MD renal pathologist at arkana laboratories
By Clarissa Cassol, MD

Jul 26, 2022

toluidine blue section showing fabry disease

What is your diagnosis?


This is a toluidine blue section showing numerous densely stained lipid inclusions in podocytes, some with concentric laminations. This finding is most suspicious for Fabry disease.  The differential diagnosis includes LMX1B mutation or iatrogenic phospholipidosis secondary to drugs such as chloroquine, amiodarone, antidepressants, and anti-cholesterol medications among others (see references below).  Correlation with other diagnostic tests such as alpha galactosidase activity and/or genetic analysis is required for the definitive diagnosis of Fabry’s disease.

Woywodt A, Hellwg S, et al.  A wild zebra chase.  Nephrol Dial Transplant 2007;22(10):3074-7.

Bracamonte ER, Kowalewska J, et al.  Iatrogenic phospholipidosis mimicking Fabry disease.  Am J Kidney Dis 2006; 48:844-850.

Lei L, Oh G, Sutherland S, Abra G, Higgins J, Sibley R, et al. Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis. Pediatric Nephrology. 2020;35(9):1647-57.



Quick note: This post is to be used for informational purposes only and does not constitute medical or health advice. Each person should consult their own doctor with respect to matters referenced. Arkana Laboratories assumes no liability for actions taken in reliance upon the information contained herein.