*Purpose: The purpose of this study was to consider the clinical courses of two patients with MPV17 mutations and to evaluate the efficacy of liver transplant in patients with different allelic variants of this mutation.

*Methods: We reviewed the medical records of two unrelated patients with MPV17 disease who were evaluated for liver transplantation at our institution. Methods for data collection were in accordance with the Helsinki Declaration of 1975.

*Results: Patient 1: The patient is the daughter of a distantly consanguineous Caucasian couple. Her older sister was diagnosed with complex III deficiency MDS at 6 months-of-age and expired 4 months later. The patient was diagnosed with complex I MDS deficiency at 1 year of age; later molecular genetic testing revealed compound heterozygous sequence variants in MPV17(c293C>T; c280G>C). At age 6, she presented for liver transplant evaluation, after non-metastatic hepatocellular carcinoma was diagnosed. While the patient did have mild peripheral neuropathy, she ambulated independently and attended school. Because her neurological disease was not advanced, she underwent liver transplantation at age 7. In 5 years of post-transplant follow-up, she remains cancer-free, however, she has experienced slowly progressive peripheral neuropathy and has difficulty walking distances. Patient 2:The patient is the product of a non-consanguineous union. She initially presented at 2 months-of-age with growth failure, hyperbilirubinemia, seizures, and liver failure. Molecular genetics revealed compound heterozygous sequence variants in MPV17(c191C>G; c275A>C). After recovering with supportive measures, she presented to hospital again 2 weeks later with acute on chronic liver failure. She was briefly placed on the liver transplant waitlist, but removed when new onset pulmonary hypertension developed. Her condition continued to deteriorate and she ultimately died due to heart failure.

*Conclusions: Though both patients had hepatologic and neurologic manifestations of MPV17 disease, they presented differently and ultimately had very different clinical courses. Patient 1 demonstrates that OLT may be utilized selectively in children with a milder phenotype, though the extrahepatic disease appears to progress. Patient 2, who presented with more severe disease at an earlier age, illustrates a more rapidly progressive phenotype which may not benefit from liver transplantation. Further knowledge of these disparate phenotypes, and possibly genotype-phenotype correlations, may help clinicians identify patients with MPV17 disease who would most benefit from OLT. The hepatic manifestations of this disease are often severe, thus establishing a protocol for the utility of OLT may significantly improve the morbidity and mortality of affected patients.

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