Looking for ‘mulberry bodies’ may help in Fabry disease diagnosis

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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Looking for abnormal, clumped features — dubbed mulberry bodies by scientists — in cells of a person’s urine may be useful for the detection and diagnosis of Fabry disease.

That’s according to a new study, titled “Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease,” that found such testing to have high accuracy, especially in patients who are female. The work was published in Molecular Genetics and Metabolism Reports.

“[Mulberry bodies/mulberry cells] testing is highly accurate in diagnosing [Fabry disease] and should be considered during the initial evaluation prior to genetic testing, particularly in female patients,” the researchers wrote.

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Testing cells in urine may aid in Fabry disease diagnosis

Fabry disease is caused by mutations in the GLA gene, which result in the toxic buildup of certain fatty molecules in the body’s cells. When cells with this type of buildup are visualized under a microscope, it may be possible to see clumpy structures formed by this toxic molecule buildup. Because of their particular shape and appearance, these structures have become known as mulberry bodies.

Cells containing mulberry bodies, called mulberry cells, are often visible in urine samples from people with Fabry disease. Looking for these cells may useful to help diagnose Fabry disease, but there hasn’t been much research into the potential utility of mulberry cells in the urine as a diagnostic marker.

This analysis included data on 139 people who underwent urine analysis to check for mulberry cells due to suspected Fabry. Among them, 18 eventually had a confirmed diagnosis of Fabry disease, while the other 121 did not have the rare genetic disorder.

Most of the 18 patients who were diagnosed were undergoing the testing because they had a family member with Fabry, but were not themselves experiencing any disease symptoms. Many of these patients were female; Fabry is an X-linked disease, so it is usually less severe in female individuals.

Results showed that 17 of the 18 Fabry patients had mulberry cells detectable in their urine.

All asymptomatic female carriers tested positive for MBs/MCs [mulberry bodies/mulberry cells].

By contrast, mulberry cells were not detected in any of the individuals who did not have Fabry disease.

“Urinary MBs/MCs [mulberry bodies/mulberry cells] were detected in most patients with [Fabry disease], including an asymptomatic 6-year-old boy and an 80-year-old male with normal renal function at the time of testing. Moreover, all asymptomatic female carriers tested positive for MBs/MCs,” the researchers wrote.

Collectively, these data suggest that testing for mulberry cells in urine “is highly reliable in diagnosing patients with clinically suspected” Fabry disease, the researchers wrote.

This type of assessment might be especially useful in situations where other diagnostic modalities like genetic testing aren’t available, the team noted.