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Published on: May 7, 2015
Combined Heart and Liver Transplantation in Delayed-Onset Propionic Acidemia
Mattie K White1, Omar T Sims1, Jason Eng1
1Department of Gastroenterology and Hepatology, Cleveland Clinic, Cleveland, OH.
Insights
Propionic acidemia in Amish adults can cause severe heart problems. This case highlights the first combined liver and heart transplant in an adult with this rare metabolic disorder.
Area of Science:
- Biochemistry
- Cardiology
- Genetics
Background:
- Propionic acidemia is a rare inherited metabolic disorder.
- Amish populations may present with delayed or severe symptoms.
- Cardiac involvement in propionic acidemia can be life-threatening.
Observation:
- A case of an Amish adult with newly diagnosed propionic acidemia is presented.
- The patient experienced severe nonischemic dilated cardiomyopathy requiring advanced cardiac life support.
- This represents a delayed presentation despite metabolic control efforts.
Findings:
- The patient underwent the first reported combined liver and heart transplantation for propionic acidemia in an adult.
- Successful transplantation was achieved in a complex case involving a rare metabolic disorder and severe cardiac compromise.
- Management required meticulous metabolic monitoring and prevention of catabolic states.
Implications:
- Combined liver and heart transplantation is a viable, albeit complex, option for select adult propionic acidemia patients with cardiac failure.
- This case expands the understanding of propionic acidemia's cardiac manifestations and treatment possibilities in adults.
- Highlights the importance of early diagnosis and multidisciplinary care for rare metabolic diseases.
Abstract:
Amish patients with propionic acidemia can have delayed presentations with rapid onset, severe cardiac decompensation despite metabolic control. Medical management is limited to strict low protein diet and correction of underlying catabolic triggers. Liver transplantation is indicated in pediatric patients with recurrent metabolic decompensation. There are limited reports of pediatric combined liver and heart transplantation. We present the first case of combined liver and heart transplantation in an Amish adult with newly diagnosed propionic acidemia and severe nonischemic dilated cardiomyopathy on advanced cardiac life support. Special considerations were necessary for close metabolic status monitoring and prevention of catabolic states.
