Long term results of liver transplantation for alpha-1 antitrypsin deficiency

Abstract

Introduction: Liver transplantation (LT) is the therapeutic option for end-stage liver disease associated with alpha1 antitrypsin (A1AT) deficiency. The aim of the present retrospective study was to report on long-term outcomes following LT for A1AT deficiency. Methods: The medical records of 90 pediatric and adult patients transplanted between 1982 and 2017 in France and Geneva (Switzerland) were reviewed. Results: The study population consisted of 32 adults and 58 children; median age at transplant was 13.0 years (range: 0.2-65.1), and 65 were male (72.2%). Eighty-two patients (94.8% of children and 84.4% of adults) had the PI * ZZ genotype/phenotype and eight patients (8.9%) had the Pi * SZ genotype/phenotype. Eighty-four patients (93.3%) were transplanted for end-stage liver disease and six (all Pi * ZZ adults) for HCC. Median follow-up after LT was 13.6 years (0.1-31.7). The overall cumulative patient survival rates post-transplant were 97.8% at 1 year, and 95.5%, 95.5%, 92.0%, 89.1% at 5, 10, 15, 20 years respectively.✩ This study did not receive funding.

Alpha-1 Antitrypsin and Hepatocellular Carcinoma in Liver Cirrhosis: SERPINA1 MZ or MS Genotype Carriage Decreases the Risk

“…In our study, we excluded all ZZ homozygotes for the following reasons: firstly, our aim was to evaluate the risk in heterozygous carriers of the Z or S allele; secondly, the number of ZZ homozygotes was low in our cohort, and lastly, the evaluation of the risk of HCC in ZZ homozygotes is complicated by the fact that ZZ homozygotes often develop severe liver fibrosis and cirrhosis at a younger age. However, the recently published data from European Liver Transplantation registry showed that ZZ homozygotes do not represent a group with high risk of HCC; among 90 patients transplanted for AATD, 32 adults and 58 children, only 6 (6.7%) patients developed HCC [ 38 ]. Both MZ and MS heterozygotes in our study had low serum AAT levels.…”

Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder

“…1,71,72 Although data are limited, the existing evidence demonstrates excellent survival and rapid normalization of serum AAT concentrations in both adults and children following liver transplantation. [73][74][75] Notably, since individuals with AATD who have liver cirrhosis may rapidly decompensate, 76 evaluation for liver transplantation should be considered in the early stages. In line with the genotype-associated susceptibilities described above, only <10% of Pi*ZZ individuals undergoing liver transplantation had an additional liver disorder, compared to 40% and 90% of transplanted Pi*SZ and Pi*MZ subjects, respectively.…”

Lung and liver transplantation in patients with alpha-1 antitrypsin deficiency

“…49 More recently, in a study of 32 adults and 58 children with the AATD undergoing liver transplantation between 1982 and 2017 in Europe, overall patient survival rates were 97.8%, 95.5%, 95.5, 92.0% and 89.1% at 1, 5, 10, 15, and 20 years, respectively. 52 The AATD genotype may have a minor influence on survival rates post liver transplantation, with one study, predominantly in adults, reporting respective 3-, 5-, and 10-year survival rates of 83%, 80%, and 72% for PI*ZZ patients, compared with 86%, 79%, and 79% for PI*SZ patients. 53 Despite these minor differences, the survival rate following liver transplantation for both adult and pediatric patients with severe AATD is considered excellent.…”

“… 49 More recently, in a study of 32 adults and 58 children with the AATD undergoing liver transplantation between 1982 and 2017 in Europe, overall patient survival rates were 97.8%, 95.5%, 95.5, 92.0% and 89.1% at 1, 5, 10, 15, and 20 years, respectively. 52 …”