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[Combined heart and kidney transplantation in Fabry's disease: Long-term outcomes in two patients]
S-N Tran Ba1, O Lidove2, R Dorent3
1Service de médecine interne-rhumatologie, hôpital de la Croix-Saint-Simon, 125, rue d'Avron, 75020 Paris, France.
Insights
Combined heart and kidney transplants offer a good prognosis for Fabry disease patients with heart and kidney failure. Early diagnosis is crucial to avoid high perioperative mortality in this lysosomal storage disorder.
Area of Science:
- Cardiology
- Nephrology
- Genetics
Background:
- Fabry disease is a lysosomal storage disorder caused by alpha-galactosidase A deficiency.
- It can lead to severe heart (cardiomyopathy) and kidney failure.
- Limited data exists on combined heart and kidney transplantation outcomes in Fabry disease.
Observation:
- Two brothers diagnosed with Fabry disease post-30 years underwent combined heart and kidney transplantation.
- Transplantations occurred at ages 49 and 42 due to severe hypertrophic cardiomyopathy and end-stage renal failure.
- Both patients survived 4 and 9 years post-transplant, respectively, with no disease recurrence in transplanted organs.
Findings:
- Combined heart and kidney transplantation is an effective treatment for Fabry disease-related cardiomyopathy and kidney failure.
- Careful patient selection is key to a favorable prognosis.
- Early diagnosis is critical to mitigate risks associated with high perioperative mortality.
Implications:
- Combined heart and kidney transplantation can be a viable therapeutic option for select Fabry disease patients.
- Emphasizes the importance of timely diagnosis and intervention for better patient outcomes.
- Highlights the potential for long-term survival and disease management in Fabry disease.
Introduction:
Fabry disease is a lysosomal storage disorder linked to an alpha-galactosidase A deficiency that can lead to heart and kidney failure. There is little data about the prognosis of patients who undergo a combined heart and kidney transplantation.
Case Reports:
Two brothers who were diagnosed with Fabry disease after the age of 30 years underwent a combined heart and kidney transplantation at respectively 49 and 42 years of age because of a severe hypertrophic cardiomyopathy with end stage renal failure. They are alive respectively 4 and 9 years after the transplantation. No recurrence of the disease in the transplanted organs has been found.
Conclusion:
Combined heart and kidney transplantation in Fabry disease is an efficient therapy for the cardiomyopathy and kidney failure. Its prognosis can be good when the patients are carefully selected. However, an early diagnosis is critical in order to avoid a procedure associated with a high perioperative mortality.
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