Imaging Technique May Help Confirm Diagnosis of Fabry Disease, Case Study Reports

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by Diogo Pinto |

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A handheld imaging device may help physicians confirm a diagnosis of Fabry disease in patients, according to a case report.

This noninvasive technique, called handheld in vivo reflectance confocal microscopy (HH-RCM), can provide high-resolution, real-time images of skin and eye structures, which could be useful in providing an early diagnosis of Fabry disease, as well as helping physicians evaluate the effects of enzyme replacement therapy after a diagnosis is confirmed.

The study, “Role of handheld in vivo reflectance confocal microscopy for the diagnosis of Fabry disease: a case report,” was published in Diseases.

Fabry disease is a genetic disorder caused by mutations in the GLA gene. This mutation leads to a deficiency of the enzyme alpha-galactosidase A, and the buildup of a fatty substance called globotriaosylceramide (Gb3 or GL-3) in cells throughout the body.

Fabry disease is usually diagnosed based on lesions on the skin and eyes, including angiokeratomas — a skin lesion that results in small reddish or bluish spots — and cornea verticillata, the formation of deposits in the eye’s cornea with a palm leaf pattern.

Researchers used the HH-RCM technique to identify skin and eye lesions in a 33-year-old man with Fabry disease. The patient exhibited multiple red-blue to black spots, with a diameter of 2-5 millimeters, on his right hip and penis.

HH-RCM imaging revealed the existence of dilated vascular spaces in the skin containing blood cells, supporting the diagnosis of multiple angiokeratomas. The technique also identified spiral-like lines in the corneas of both eyes, likely related to the accumulation of Gb3 in this tissue.

The patient had deficient alpha-galactosidase enzyme activity in his white blood cells, confirming the diagnosis of Fabry disease.

After the conclusive diagnosis, the patient started enzyme replacement therapy with Fabrazyme (agalsidase beta).

HH-RCM was able to effectively confirm the clinical diagnosis of Fabry disease in this particular patient, and can potentially be used to help diagnose other patients or as a follow-up tool to monitor the effects of a particular therapy, according to the researchers.

“HH-RCM could be an important tool for supporting Fabry disease early diagnosis. This device can allow a real-time and noninvasive examination of both the skin and the cornea that can help clinicians to confirm the clinical diagnosis of angiokeratomas and of corneal glycosphingolipids deposits,” they said.