Solid organ transplantation in primary mitochondrial disease: Proceed with caution

Sumit Parikh*, Amel Karaa, Amy Goldstein, Yi S. Ng, Grainne Gorman, Annette Feigenbaum, John Christodoulou, Richard Haas, Mark Tarnopolsky, Bruce K. Cohen, David Dimmock, Tim Feyma, Mary K. Koenig, Helen Mundy, David Niyazov, Russell P. Saneto, Mark S. Wainwright, Courtney Wusthoff, Robert McFarland, Fernando Scaglia

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


Solid organ transplants are rarely performed in both adult and pediatric patients with primary mitochondrial disease. Poor outcomes have been described in case reports and small case series. It is unclear whether the underlying genetic disease has a significant impact on post-transplant morbidity and mortality. Data were obtained for 35 patients from 17 Mitochondrial Disease Centers across North America, the United Kingdom and Australia. Patient outcomes were noted after liver, kidney or heart transplantation. Excluding patients with POLG-related disease, post-transplant survival approached or met outcomes seen in non-mitochondrial disease transplant patients. The majority of mitochondrial disease patients did not have worsening of their mitochondrial disease within 90-days post-transplant. Post-transplant complications, including organ rejection, were not a common occurrence and were generally treatable. Many patients did not have a mitochondrial disease considered or diagnosed prior to transplantation. In conclusion, patients with mitochondrial disease in this cohort generally tolerated solid-organ transplantation. Such patients may not need to be excluded from transplant solely for their mitochondrial diagnosis; additional caution may be needed for patients with POLG-related disease. Transplant teams should be aware of mitochondrial disease as an etiology for organ-failure and consider appropriate consultation in patients without a known cause of their symptoms.

Original languageEnglish (US)
Pages (from-to)178-184
Number of pages7
JournalMolecular Genetics and Metabolism
Issue number3
StatePublished - Jul 1 2016


  • Heart transplant
  • Kidney transplant
  • Liver transplant
  • Mitochondrial disease
  • Solid organ transplant

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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