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Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous ZZ alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin (AAT) deficiency, which is an under-recognised metabolic genetic disorder, is known to cause severe lung disease and liver cirrhosis in about 10%–15% of cases. Patients with AAT deficiency are at a higher risk for developing hepatocellular carcinoma, both in cirrhotic and in non-...

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Autores principales: Vuurberg, Nienke E, Van den Boom, Anne Loes, Van den Heuvel, Marius C, Klaase, Joost M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7931763/
https://www.ncbi.nlm.nih.gov/pubmed/33658218
http://dx.doi.org/10.1136/bcr-2020-240077
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author Vuurberg, Nienke E
Van den Boom, Anne Loes
Van den Heuvel, Marius C
Klaase, Joost M
author_facet Vuurberg, Nienke E
Van den Boom, Anne Loes
Van den Heuvel, Marius C
Klaase, Joost M
author_sort Vuurberg, Nienke E
collection PubMed
description Alpha-1 antitrypsin (AAT) deficiency, which is an under-recognised metabolic genetic disorder, is known to cause severe lung disease and liver cirrhosis in about 10%–15% of cases. Patients with AAT deficiency are at a higher risk for developing hepatocellular carcinoma, both in cirrhotic and in non-cirrhotic livers. In this case report, a 48-year-old woman with homozygous ZZ AAT deficiency presented with abdominal pain, and by imaging, an abnormal area in the liver was found. The initial differential diagnosis consisted of benign abnormalities but a malignancy could not be ruled out. Finally, this abnormality turned out to be an intrahepatic cholangiocarcinoma (iCCA) in a non-cirrhotic liver. Since this type of tumour has been very infrequently described to be associated with AAT deficiency, the question remains whether alpha-1 trypsin accumulation in the hepatocytes was responsible for the development of iCCA. However, other associated factors for developing an iCCA were ruled out.
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spelling pubmed-79317632021-03-19 Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous ZZ alpha-1 antitrypsin deficiency Vuurberg, Nienke E Van den Boom, Anne Loes Van den Heuvel, Marius C Klaase, Joost M BMJ Case Rep Case Report Alpha-1 antitrypsin (AAT) deficiency, which is an under-recognised metabolic genetic disorder, is known to cause severe lung disease and liver cirrhosis in about 10%–15% of cases. Patients with AAT deficiency are at a higher risk for developing hepatocellular carcinoma, both in cirrhotic and in non-cirrhotic livers. In this case report, a 48-year-old woman with homozygous ZZ AAT deficiency presented with abdominal pain, and by imaging, an abnormal area in the liver was found. The initial differential diagnosis consisted of benign abnormalities but a malignancy could not be ruled out. Finally, this abnormality turned out to be an intrahepatic cholangiocarcinoma (iCCA) in a non-cirrhotic liver. Since this type of tumour has been very infrequently described to be associated with AAT deficiency, the question remains whether alpha-1 trypsin accumulation in the hepatocytes was responsible for the development of iCCA. However, other associated factors for developing an iCCA were ruled out. BMJ Publishing Group 2021-03-03 /pmc/articles/PMC7931763/ /pubmed/33658218 http://dx.doi.org/10.1136/bcr-2020-240077 Text en © BMJ Publishing Group Limited 2021. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.
spellingShingle Case Report
Vuurberg, Nienke E
Van den Boom, Anne Loes
Van den Heuvel, Marius C
Klaase, Joost M
Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous ZZ alpha-1 antitrypsin deficiency
title Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous ZZ alpha-1 antitrypsin deficiency
title_full Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous ZZ alpha-1 antitrypsin deficiency
title_fullStr Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous ZZ alpha-1 antitrypsin deficiency
title_full_unstemmed Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous ZZ alpha-1 antitrypsin deficiency
title_short Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous ZZ alpha-1 antitrypsin deficiency
title_sort intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous zz alpha-1 antitrypsin deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7931763/
https://www.ncbi.nlm.nih.gov/pubmed/33658218
http://dx.doi.org/10.1136/bcr-2020-240077
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