Liver Transplantation in Alpha-1 Antitrypsin Deficiency: A Retrospective Case-Control Study in a Brazilian Center

Autores/as

  • Stella Maria Macêdo Universidade de Fortaleza – Curso de Medicina – Fortaleza (CE) – Brasil. https://orcid.org/0009-0004-9600-3683
  • Elodie Bomfim Hyppolito Universidade Federal do Ceará – Hospital Universitário Walter Cantídio – Serviço de Transplante de Fígado – Departamento de Cirurgia – Fortaleza (CE) – Brasil. https://orcid.org/0000-0002-6622-6585
  • Karen Suzyanne Coelho Gomes Universidade de Fortaleza – Curso de Medicina – Fortaleza (CE) – Brasil. https://orcid.org/0009-0008-0947-8349
  • Larissa Ponte Dias Universidade de Fortaleza – Curso de Medicina – Fortaleza (CE) – Brasil. https://orcid.org/0009-0007-8347-4365
  • Larissa Peixoto Teixeira Universidade de Fortaleza – Curso de Medicina – Fortaleza (CE) – Brasil. https://orcid.org/0009-0007-3645-8039
  • Ana Leatrice de Oliveira Sampaio Universidade Federal do Maranhão – Hospital das Clínicas – São Luís (MA) – Brasil. https://orcid.org/0009-0009-6382-262X
  • Denissa Ferreira Gomes de Mesquita Universidade Federal do Ceará – Hospital Universitário Walter Cantídio – Serviço de Transplante de Fígado – Departamento de Cirurgia – Fortaleza (CE) – Brasil. https://orcid.org/0009-0000-2779-5542
  • Clébia Azevedo de Lima Universidade Federal do Ceará – Hospital Universitário Walter Cantídio – Serviço de Transplante de Fígado – Departamento de Cirurgia – Fortaleza (CE) – Brasil.
  • Bartolomeu Feitosa Neto Universidade Federal do Ceará – Hospital Universitário Walter Cantídio – Serviço de Transplante de Fígado – Departamento de Cirurgia – Fortaleza (CE) – Brasil. https://orcid.org/0009-0000-4169-4246
  • Antônio Brazil Viana Júnior Universidade Federal do Ceará – Hospital Universitário Walter Cantídio – Unidade de Pesquisa Brazil – Departamento de Cirurgia – Fortaleza (CE) – Brasil. https://orcid.org/0000-0001-6608-3134
  • Gustavo Rêgo Coelho Universidade Federal do Ceará – Hospital Universitário Walter Cantídio – Serviço de Transplante de Fígado – Departamento de Cirurgia – Fortaleza (CE) – Brasil. https://orcid.org/0000-0003-0845-2864
  • José Huygens Parente Garcia Universidade Federal do Ceará – Hospital Universitário Walter Cantídio – Serviço de Transplante de Fígado – Departamento de Cirurgia – Fortaleza (CE) – Brasil. https://orcid.org/0000-0003-0845-2864

Palabras clave:

Alpha-1 Antitrypsin Deficiency, Liver Transplantation, Cirrhosis, Hepatocellular Carcinoma, Retrospective Study

Resumen

Objectives:  Alpha-1 antitrypsin deficiency (AATD) is a rare genetic metabolic disease curable with liver transplantation (LT). The aim of this study was to comparatively evaluate patients with LT due to AATD and other causes. Methods:  Observational, retrospective, analytical, case-control study evaluating 2,511 LT patients, 19 (0.75%) with AATD, from May 2002 to December 2024. Data were obtained by reviewing the medical records and stored in the REDCap program. Results:  The median age of AATD and non-AATD (NAATD) patients was similar (56.3 [Δ7-71] and 52.4 [Δ6-78]; p = 0.92, respectively). Males predominated in both groups. The pre-LT Model for End-Stage Liver Disease (MELD)-Na scores for AATD and NAATD patients were 20 (Δ8-24) and 18 (Δ6-72), respectively. Two patients with AATD had positive serologies compatible with previous hepatitis B infection. Three patients also had a clinical epidemiological diagnosis of concomitant nonalcoholic fatty liver disease. The diagnosis of AATD was made only through explant in nine patients (n = 47.4%). The mean pre-transplant alpha-1 antitrypsin dosage was 33.42 mg/dL (Δ19-59.5). All patients who underwent immunophenotyping had the PiZZ phenotype. The indication for LT was decompensated cirrhosis (DC); three patients (16.4%) had concomitant hepatocellular carcinoma (HCC), one diagnosed only in the explant. The incidence of HCC was 15.9% (AATD) and 31.3% (NAATD) (p = 0.34). None of the patients with AATD had severe lung disease. The survival of patients with AATD submitted to LT at 30 days, 1, and 5 years was 94.7, 88.2, and 64.7%, respectively, similar to the other causes (91.4, 80.1, and 68.1%; p = 0.47). Conclusion:  AATD was a rare cause of LT due to DC and HCC, predominantly in adults with piZZ phenotype without relevant pulmonary involvement, and whose diagnosis is frequently made after LT. The epidemiology, indication, prevalence of HCC, and survival were similar to those of other causes of LT.

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Biografía del autor/a

Larissa Ponte Dias, Universidade de Fortaleza – Curso de Medicina – Fortaleza (CE) – Brasil.

FOR.

Gustavo Rêgo Coelho, Universidade Federal do Ceará – Hospital Universitário Walter Cantídio – Serviço de Transplante de Fígado – Departamento de Cirurgia – Fortaleza (CE) – Brasil.

ary Association.

Citas

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Publicado

2025-10-27

Cómo citar

1.
Macêdo SM, Hyppolito EB, Gomes KSC, Dias LP, Teixeira LP, Sampaio AL de O, et al. Liver Transplantation in Alpha-1 Antitrypsin Deficiency: A Retrospective Case-Control Study in a Brazilian Center. bjt [Internet]. 27 de octubre de 2025 [citado 28 de octubre de 2025];28. Disponible en: https://bjt.emnuvens.com.br/revista/article/view/677

Número

Vol. 28 (2025)

Sección

Artículo Original

Licencia

Derechos de autor 2025 Stella Maria Macêdo, Elodie Bomfim Hyppolito, Karen Suzyanne Coelho Gomes, Larissa Ponte Dias, Larissa Peixoto Teixeira, Ana Leatrice de Oliveira Sampaio, Denissa Ferreira Gomes de Mesquita, Clébia Azevedo de Lima, Bartolomeu Feitosa Neto, Antônio Brazil Viana Júnior, Gustavo Rêgo Coelho, José Huygens Parente Garcia

Creative Commons License

Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.