Cargando…
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-...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1783660354343010304 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7931763 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT vuurbergnienkee intrahepaticcholangiocarcinomainanoncirrhoticliverinapatientwithhomozygouszzalpha1antitrypsindeficiency AT vandenboomanneloes intrahepaticcholangiocarcinomainanoncirrhoticliverinapatientwithhomozygouszzalpha1antitrypsindeficiency AT vandenheuvelmariusc intrahepaticcholangiocarcinomainanoncirrhoticliverinapatientwithhomozygouszzalpha1antitrypsindeficiency AT klaasejoostm intrahepaticcholangiocarcinomainanoncirrhoticliverinapatientwithhomozygouszzalpha1antitrypsindeficiency |