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Liver function in alpha-1-antitrypsin deficient individuals at 37 to 40 years of age

Mostafavi, Behrouz LU ; Diaz, Sandra LU ; Tanash, Hanan A. LU and Piitulainen, Eeva LU (2017) In Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries 96(12).
Abstract

Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is a risk factor for liver disease, but the prevalence of liver cirrhosis and hepatocellular cancer in PiZZ adults is unknown. The risk of liver disease in adults with moderate AAT deficiency (PiSZ) is also unknown. A cohort of 127 PiZZ, 2 PiZnull, 54 PiSZ, and 1 PiSnull individuals were identified by the Swedish national neonatal AAT screening program between 1972 and 1974, when all 200, 000 newborn infants in Sweden were screened for AAT deficiency. The cohort has been followed up since birth. Our aim was to study liver function and signs of liver disease in this cohort at 37 to 40 years of age in comparison with a matched, random sample of control subjects identified from the... (More)

Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is a risk factor for liver disease, but the prevalence of liver cirrhosis and hepatocellular cancer in PiZZ adults is unknown. The risk of liver disease in adults with moderate AAT deficiency (PiSZ) is also unknown. A cohort of 127 PiZZ, 2 PiZnull, 54 PiSZ, and 1 PiSnull individuals were identified by the Swedish national neonatal AAT screening program between 1972 and 1974, when all 200, 000 newborn infants in Sweden were screened for AAT deficiency. The cohort has been followed up since birth. Our aim was to study liver function and signs of liver disease in this cohort at 37 to 40 years of age in comparison with a matched, random sample of control subjects identified from the population registry. Eighty seven PiZZ, 32 PiSZ, and 92 control subjects (PiMM) answered a questionnaire on medication and alcohol consumption and provided blood samples. Liver stiffness was assessed by Acoustic Radiation Force Impulse (ARFI) elastography in 32 PiZZ, 15 PiSZ, and 51 PiMM subjects. The median of liver function tests and procollagen-III-peptide were within the normal range in all Pi subgroups. However, the PiZZ men had significantly higher plasma bilirubin than the PiMM men (P=0.018). Plasma ?-glutamyl transferase (GGT) was significantly higher in the PiZZ men (P=0.009) and the PiSZ men (P=0.021) compared with the PiMM men. The median of liver stiffness was significantly higher in the PiZZ men (P=0.037) and the PiSZ men (P=0.032) compared with the PiMM men. The PiZZ women taking medication influencing liver enzymes had significantly higher GGT than the PiMM women on the corresponding treatment (P=0.023). These AAT-deficient individuals identified by neonatal screening have normal plasma levels of liver function tests, and no clinical signs indicating liver disease at the age of 37 to 40 years. However, bilirubin, GGT, and liver stiffness are significantly higher in PiZZ men than PiMM men.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Alpha-1-antitrypsin deficiency, Elastography, Liver disease, Liver function, Screening
in
Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
volume
96
issue
12
publisher
Lippincott Williams & Wilkins
external identifiers
  • scopus:85017323201
  • wos:000397619800007
ISSN
0025-7974
DOI
10.1097/MD.0000000000006180
language
English
LU publication?
yes
id
28d5c2ad-b244-4d8a-b7d9-b8f6b4fb3b95
date added to LUP
2017-05-23 11:55:27
date last changed
2018-01-07 12:04:53
@article{28d5c2ad-b244-4d8a-b7d9-b8f6b4fb3b95,
  abstract     = {<p>Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is a risk factor for liver disease, but the prevalence of liver cirrhosis and hepatocellular cancer in PiZZ adults is unknown. The risk of liver disease in adults with moderate AAT deficiency (PiSZ) is also unknown. A cohort of 127 PiZZ, 2 PiZnull, 54 PiSZ, and 1 PiSnull individuals were identified by the Swedish national neonatal AAT screening program between 1972 and 1974, when all 200, 000 newborn infants in Sweden were screened for AAT deficiency. The cohort has been followed up since birth. Our aim was to study liver function and signs of liver disease in this cohort at 37 to 40 years of age in comparison with a matched, random sample of control subjects identified from the population registry. Eighty seven PiZZ, 32 PiSZ, and 92 control subjects (PiMM) answered a questionnaire on medication and alcohol consumption and provided blood samples. Liver stiffness was assessed by Acoustic Radiation Force Impulse (ARFI) elastography in 32 PiZZ, 15 PiSZ, and 51 PiMM subjects. The median of liver function tests and procollagen-III-peptide were within the normal range in all Pi subgroups. However, the PiZZ men had significantly higher plasma bilirubin than the PiMM men (P=0.018). Plasma ?-glutamyl transferase (GGT) was significantly higher in the PiZZ men (P=0.009) and the PiSZ men (P=0.021) compared with the PiMM men. The median of liver stiffness was significantly higher in the PiZZ men (P=0.037) and the PiSZ men (P=0.032) compared with the PiMM men. The PiZZ women taking medication influencing liver enzymes had significantly higher GGT than the PiMM women on the corresponding treatment (P=0.023). These AAT-deficient individuals identified by neonatal screening have normal plasma levels of liver function tests, and no clinical signs indicating liver disease at the age of 37 to 40 years. However, bilirubin, GGT, and liver stiffness are significantly higher in PiZZ men than PiMM men.</p>},
  articleno    = {e6180},
  author       = {Mostafavi, Behrouz and Diaz, Sandra and Tanash, Hanan A. and Piitulainen, Eeva},
  issn         = {0025-7974},
  keyword      = {Alpha-1-antitrypsin deficiency,Elastography,Liver disease,Liver function,Screening},
  language     = {eng},
  number       = {12},
  publisher    = {Lippincott Williams & Wilkins},
  series       = {Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries},
  title        = {Liver function in alpha-1-antitrypsin deficient individuals at 37 to 40 years of age},
  url          = {http://dx.doi.org/10.1097/MD.0000000000006180},
  volume       = {96},
  year         = {2017},
}