A boy with alpha-1 antitrypsin deficiency (AATD) underwent a liver transplantation from a heterozygous donor, researchers reported in Pediatric Transplantation

The 9-year-old boy was diagnosed with AATD (ZZ phenotype) at 4 months of age. At that time, he presented with hepatomegaly and was treated with ursodeoxycholic acid and offered supportive care. At 7 years of age, the boy was diagnosed with esophageal varices, which were treated with variceal band ligation. 

The patient presented with a 1-month history of worsening ascites, jaundice, and coagulopathy in the absence of bleeding, pruritus, encephalopathy, or dyspnea. Laboratory investigations revealed elevated bilirubin and albumin levels, as well as decreased sodium. An abdominal ultrasound was performed, showing evidence of ascites, cirrhosis, splenomegaly, and reversed flow in the portal vein.

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Upon completion of the institutional assessment, the child was considered a good candidate for liver transplantation. Clinicians identified his maternal aunt as a potential donor. However, she was heterozygous (MZ phenotype) for AATD; a preoperative assessment demonstrated that her alpha-1 antitrypsin (AAT) levels were 84 mg/dL. 

Read more about AATD etiology 

Due to the urgency of the boy’s clinical condition, his physicians decided to proceed with the liver transplantation. Perioperatively, the patient had an abnormally large abdominal drain output of approximately 700 mL per drain, but this improved over several weeks. Postoperatively, the boy’s AATD phenotype was noted to be MZ. His AAT levels were 52 mg/dL on postoperative day 10 and rose to the normal range within 3 months. 

A biopsy of the liver taken intraoperatively demonstrated a histologically normal liver. The patient was noted to be well at 26 months post-transplant; his liver function tests returned to normal, and he demonstrated normal functional status. 

“Donor heterozygosity for AATD should not be considered a contraindication for living donor liver transplantation even for recipients with AATD,” the authors of the report concluded.


Sood V, Lee EJ, Raghu V, et al. Liver transplantation for alpha 1 antitrypsin deficiency (A1ATD) using a heterozygous donor: outcomes and review of the literaturePediatr Transplant. Published online February 19, 2023. doi:10.1111/petr.14488