Rare Disease Report

Can Depression in Fabry Patients be Managed via Teleconference?

FEBRUARY 16, 2017
Andrew Black
Patients with lysosomal diseases such as Fabry disease may not always be physically able to meet clinicians for all of their regular medical needs. But what if some of those appointments can be made via teleconference. Such approach may be feasible for some medical visits such as those that involving psychological counselling. 
A recent study was performed to assess the effects of psychological counseling for depression in patients suffering from Fabry disease via teleconferencing.
Patients went through 6 months of either in-person or telecounseling with a health psychologist. Patients also completed a 6-month follow-up period without counseling. Counseling effectiveness was based off of the patient’s depression level, adaptive functioning, subjective pain experience, and quality of life (QOL).
The results of the study were recorded every 3 months.


In the study, all patients experienced improvements in their depression and mental health QOL during the 6-month counseling period. Patients sustained their improvements during the 6-month follow-up period. 
In addition, improvements in depression were correlated with improvements in mental health QOL and subjective pain severity scores, while improvements in mental health QOL were correlated with improvements in both depression and adaptive functioning.

Telecounseling vs in-person

The data suggested that telecounseling may be as effective as in-person counseling for depression for Fabry patients and might allow other individuals who would not otherwise be able to conduct in-person counseling to benefit from it as well. 

What is Fabry Disease

Fabry disease is an X-linked lysosomal storage disorder that leads to excessive deposition of globotriaosylceramide (GL-3) throughout the body. Skin, eye, kidney, heart, brain, and peripheral nervous system are highly vulnerable.
The condition is caused by deficiency of the enzyme alpha-galactosidase A (alpha-Gal A) which degrades GL-3. The accumulation of GL-3 is believed to cause a variety of symptoms, including pain, kidney failure, and increased risk of heart attack and stroke.


Ali N, Gillespie S, Laney D. Preliminary validation of telecounseling for depression in patients with Fabry disease. Presented at 13th Annual WORLDSymposium; February 13-17, 2017; San Diego, CA.

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