Fabry disease

While after a kidney transplant, Fabry disease continues to affect the rest of the body, it 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]

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.

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^[5]
• Surveillance including renal function studies, yearly cardiology evaluation, and yearly hearing evaluation^[5]

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.