2233 Emergent Living Donor Liver Transplantation for Fulminant Hepatic Failure Secondary to Wilson’s Disease

Abstract

INTRODUCTION: Liver transplantation (LT) is indicated for patients with Wilson’s disease (WD) who present with either fulminant hepatic failure (FHF) or end-stage liver disease. However, there is very limited information regarding emergent LDLT in adult patients with WD presenting with FHF. Here we report a case of FHF due to decompensated WD in an adult treated with emergent LDLT. CASE DESCRIPTION/METHODS: A 25-year-old female with no prior medical history presented with jaundice and fatigue. At presentation, lab tests showed: Br 14.8 mg/dL, ALT 42 U/L, AST 165 U/L, ALP 65 IU/L, INR 3.2. Serum ceruloplasmin level was low: 70 (Range 190-390) and 24 hour urine copper was markedly elevated at 7269 μg /24 Hr (Range 5–50). Subsequent clinical course was characterized by progressive encephalopathy and coagulopathy. Lab tests 4 days later revealed: Br 36.42, ALT 30, ALT 217, ALP 30, Cr 2.75 mg/dL, INR 5.8 (MELD > 40). She was diagnosed with FHF due to WD and underwent emergent LDLT utilizing a left lobe graft from her 33-year-old brother, who had a normal screening ceruloplasmin. Explant revealed a cirrhotic liver with necrosis, cholestasis and positive copper immunostain (Figures 1 and 2). Quantitative hepatic copper content was 2119 mcg/g (Range 10−35). Recipient genetic testing revealed c.2930C>T p. (Thr977Met) variant in homozygosity in the ATP7B gene. Donor was heterozygous. The patient gradually improved and continues to do well 8 months later with normal ceruloplasmin and 24 hour urinary copper excretion. DISCUSSION: WD is an autosomal recessive disorder of copper metabolism caused by a mutation in the ATP7B gene on chromosome 13. It affects one in 30 000 individuals with a reported carrier frequency of one in 90. LT is the only effective option in WD presenting with FHF and corrects the underlying hepatic metabolic defect. The overwhelming majority of reported cases of emergent LT for FHF secondary to WD in adults utilized deceased donor LT, with a few reported cases of LDLT in children. Given the narrow window of opportunity for LT in FHF and concerns related to heterozygosity in donors, emergent LDLT is rarely performed in this setting. In recipients with cirrhosis secondary to WD, LT using heterozygous donors for the WD gene has been shown to have outcomes comparable to that from a deceased, unrelated donor. Given the scarcity of deceased donor organs, LDLT may be a viable option for patients with decompensated WD presenting with FHF, even if the donor could potentially be heterozygous for the WD mutation.