Barriers to transplantation in adults with inborn errors of metabolism.

BACKGROUND: Transplantation in patients with inborn errors of metabolism (IEM) may be used as rescue therapy for acute decompensation, organ replacement, or disease-modifying therapy. We sought to quantify the use of transplantation in adults with IEM.

METHODS: A 10-question online survey was sent through the email list of adult IEM physicians maintained by the Society for the Study of Inborn Errors of Metabolism and posted on the website of the Society of Inherited Metabolic Diseases.

RESULTS: Thirteen centers from five continents responded. These centers, ranging in size from <50 adult patients (three centers) to >500 (two centers), reported 57 adult patients who had undergone transplantation. 29/57 (51 %) came from the two largest centers and 27/57(47 %) were renal transplants for Fabry disease (FD). Only seven transplants were identified as being done for acute decompensation. Eight of thirteen centers had not had patients with IEM passed over on the transplant list but four of these eight had not referred a patient for transplantation. 4/13 centers had patients passed over on the transplant list and reasons cited included: (a) transplant team not comfortable with underlying disease, (b) cognitive impairment in patient raised concerns about compliance, (c) multisystem disease makes single organ transplantation inappropriate, and (d) not at enough risk of life-threatening decompensation.

CONCLUSIONS: Excluding renal transplantation for FD, there is low use of transplantation in adults with IEM. Some barriers to transplantation reported by adult centers could be improved with development of educational and management modules for both transplant and metabolic programs.