Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Fabry disease


Other Names for this Disease

  • Alpha-galactosidase A deficiency
  • Anderson-Fabry disease
  • Angiokeratoma corporis diffusum
  • Angiokeratoma, diffuse
  • Ceramide trihexosidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Will Fabry disease affect a transplanted kidney? Previous to the transplant the disease was being managed with an enzyme supplement. Will the enzyme supplement need to be continued? What are, if any, cautions or additional treatments required to manage the disease with a transplanted kidney?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Can Fabry disease continue to affect the kidneys after a transplant?

After a kidney transplant, Fabry disease does continue to affect the rest of the body but does not affect the transplanted kidney(s). The transplanted kidney is not susceptible to deposition of glycosphingolipids (the fatty substance that builds up in the bodies of affected individuals) because the normal α-Gal A enzyme activity in the donor tissue breaks down the glycosphingolipid substrates within the kidney. Therefore, successful kidney transplantation restores the function of the kidney(s).[1]
Last updated: 8/2/2011

Should enzyme replacement therapy (ERT) for Fabry disease be continued after a kidney transplant?

Although the residual enzyme in a donor kidney will prevent GL3 from building up in the transplanted kidney, it cannot prevent GL3 from building up in the other cells of the body. Because of this, it has been recommended that individuals affected with Fabry disease continue ERT to prevent accumulation of GL3 in their the heart, blood vessels, and other cells of the body.[2] A pilot clinical trial studying the use of ERT in three kidney transplant patients with Fabry disease and severe cardiac involvement did strongly suggest that non-kidney related complications are improved after starting ERT and that ERT was safe for these individuals.[3] Therefore, ERT may still be useful in managing some of the other symptoms associated with Fabry disease.
Last updated: 8/2/2011

How might Fabry disease be managed after a kidney transplant?

Because Fabry disease involves multiple organs, it is still important to manage the disease after an affected individual has had a kidney transplant. Although the donor kidney is not susceptible to glycosphingolipid deposition, other parts of the body are still susceptible to damage. Management for individuals affected by Fabry disease after a kidney transplant may still include:

  • Enzyme replacement therapy (ERT) - ERT has been associated with benefit in clinical trials, including improvement of cardiac structure and function, reduction in severity of neuropathic pain, and improvement in gastrointestinal involvement in addition to stabilization of kidney function[4]
  • Treatment for acroparesthesias
  • Prevention of complications such as ischemic heart disease and cerebrovascular disease[1]
  • Surveillance including renal function studies, yearly cardiology evaluation, and yearly hearing evaluation[1]

The recommended post-transplant care may affect an individual's treatment options for Fabry disease. Individuals interested in learning about the best treatment regime for themselves or family members should consult with health care providers who specialize in Fabry disease and kidney transplantation; a multi-disciplinary approach may be necessary.

Last updated: 8/2/2011

References
Other Names for this Disease
  • Alpha-galactosidase A deficiency
  • Anderson-Fabry disease
  • Angiokeratoma corporis diffusum
  • Angiokeratoma, diffuse
  • Ceramide trihexosidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.