Volume 9 Supplement 1

International Conference for Healthcare and Medical Students (ICHAMS) 2013

Open Access

The prevalence of liver abnormalities in individuals with ZZ Alpha-1 Antitrypsin deficiency

  • OF McElvaney1,
  • L Fee1,
  • C O’Connor1 and
  • TP Carroll1
BMC Proceedings20159(Suppl 1):A40

https://doi.org/10.1186/1753-6561-9-S1-A40

Published: 14 January 2015

Background

Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder defined by low plasma levels of alpha-1 antitrypsin (AAT). It is linked primarily with the development of lung, liver and skin disease. The most common abnormal variant of AAT is the ‘Z’ variant. It is the AATD type most associated with the development of liver disease. The aim of this project is to determine the prevalence of liver abnormalities in ZZ AATD individuals.

Methods

The study cohort included 115 ZZ AATD patients. The study population was drawn from AATD patients attending the National AATD referral centre in Beaumont Hospital. The cohort is racially homogenous and the mean age is 52 ± 12 yrs (62 male and 53 female). All 115 patients provided serum samples which underwent confirmation of AATD status by phenotyping. Patients answered a standardized questionnaire about their social history and patient charts, abdominal ultrasound records, and liver function tests were reviewed to determine the incidence of liver abnormalities.

Results

Of the 115 people with AATD in our study, 45 had liver function test abnormalities. There was no correlation between increasing age and liver function test abnormalities. Thirty of the study subjects had liver abnormalities on liver ultrasound, the majority having fatty infiltration. There was no difference in BMI in those with or without liver disease. Of the 115 studied 80 answered the personal and social history survey concerning alcohol consumption. In those with liver disease 21 out of 30 participated in the survey. There were no significant differences in alcohol consumption between those with liver disease and the general AATD population.

Conclusions

In this study we found that liver disease is relatively common in the ZZ cohort, with over 25% having abnormal liver ultrasounds and over 35% having abnormal liver function tests. This is in keeping with other studies. We found no correlation between increasing age and abnormal liver function tests. We saw no link between alcohol consumption and abnormal liver ultrasounds. The frequency of fatty liver in the liver disease group raised the possibility that this was a result of increased obesity and not specifically AATD; however, there was no significant difference in BMI in this group compared to the overall ZZ population.

Authors’ Affiliations

(1)
Department of Medicine, Beaumont Hospital

References

  1. The Prevalence of AATD in Ireland. Resp. Res. 2011, PMID: 21752289Google Scholar

Copyright

© McElvaney et al; licensee BioMed Central Ltd. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Advertisement