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Post-liver transplant survival rates high among pediatric, adult patients with lethal genetic syndromes

Patients who underwent liver transplantation to treat lethal genetic syndromes experienced high rates of survival, while factors such as age and preoperative life support increased mortality risk, in a recent study.

Researchers evaluated data from 78 adults and 74 pediatric patients who underwent orthotopic liver transplantation for lethal genetic syndromes (LGS) between Feb. 1, 1984 and Sept. 9, 2012 at the University of California, Los Angeles. Diagnostic methods and treatment outcomes, including recurrence and graft and patient survival, were compared between groups.

Eighteen LGS were observed; the most common were Wilson’s disease and alfa-1-antitrypsin deficiency in the total and adult populations. Alfa-1-antitrypsin deficiency, urea cycle disorders and hyperoxaluria were most common among pediatric patients. Ninety-five percent of diagnoses relied on clinical signs, while chemical/biochemical tests were used in 76% of cases, histopathology in 61%, family history in 32% and genetic testing in 12% of the cohort.

Recurrence occurred in one pediatric and one adult case. Rates of graft survival were not significantly different between groups. Patient survival rates were greater among children at 5 years (89% vs. 73% among adults) and 20 years (77% vs. 50%) (P=.009).

Advanced age (HR=2.18; 95% CI, 1.1-4.35 for adults vs. pediatric patients), preoperative life support (HR=2.68; 95% CI, 1.28-5.64) and earlier transplantation (HR=3.41; 95% CI, 1.52-7.65) were independently associated with increased mortality risk via multivariate analysis. Cold ischemia time of more than 10 hours and a MELD score greater than 24 were associated with mortality rates in subgroup analysis of 94 patients with evaluable MELD scores.

“This is the first study to compare outcomes for pediatric and adult patients undergoing liver transplantation for LGS at a single center,” the researchers wrote. “Liver transplantation was highly successful as a therapy for the underlying LGS and achieved excellent long-term survival in pediatric and adult patients, with an extremely low recurrence rate of the underlying diseases.

“We propose that liver transplantation for LGS represents a model of personalized genomic medicine by providing gene therapy through solid organ transplantation.”