Case report: Liver Transplantation in a highly dependent Down Syndrome patient

Abstract

Despite the malformations commonly associated with Down Syndrome, the average life expectancy of individuals nowadays may reach 60-70 years of age. With these increased survival rates, the spectrum of diseases reported in these patients has been growing, particularly autoimmune diseases. This report describes a 44-year-old patient with Down Syndrome with a high degree of family dependence and end-stage liver disease (MELD-Na 38) caused by overlapping Primary Sclerosing Cholangitis and Autoimmune Hepatitis, who needed Liver Transplantation. Here, we point out two relevant aspects: the overlap of rare autoimmune diseases in patients with Trisomy 21 and the performance of Liver Transplantation in these patients. We then highlight the ethical dilemma between organ scarcity and the use of the graft in patients with neurocognitive disorders.

Keywords

• Down syndrome
• Liver Transplant
• Primary Sclerosing Cholangitis;, Autoimmune hepatitis
• Neurocognitive disorders