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The liver in 30-year-old individuals with alpha(1)-antitrypsin deficiency

E Bernspång1, J Carlson, E Piitulainen

  • 1Department of Respiratory Medicine, Lund University, University Hospital, Malmö, Sweden. elisabeth.bernspang@med.lu.se

Scandinavian Journal of Gastroenterology
|November 7, 2009
PubMed

Insights

Individuals with alpha-1-antitrypsin (AAT) deficiency (PiZZ and PiSZ) show elevated liver enzymes at age 30, though still within normal ranges. Oral contraceptive use may impact liver enzyme levels in PiZZ women.

Area of Science:

  • Genetics and Molecular Biology
  • Hepatology
  • Clinical Medicine

Background:

  • Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is linked to liver disease, including cirrhosis and hepatoma.
  • The liver disease risk associated with moderate AAT deficiency (PiSZ) is less understood.
  • Longitudinal studies are crucial for understanding the natural course of AAT deficiency and associated health risks.

Purpose of the Study:

  • To compare liver function in individuals with PiZZ and PiSZ AAT deficiency to healthy controls at age 30.
  • To assess the long-term impact of AAT deficiency on liver health markers.
  • To investigate potential influencing factors, such as oral contraceptive use, on liver enzymes in AAT-deficient individuals.

Main Methods:

  • A cohort study followed individuals identified through the Swedish National neonatal screening programme (1972-74).
  • Plasma liver enzyme levels (AST, ALT, GT) were analyzed in 89 PiZZ, 40 PiSZ, and 84 control (PiMM) subjects at age 30.
  • Statistical analysis compared enzyme levels between AAT deficiency groups and controls, including subgroup analysis for oral contraceptive use.

Main Results:

  • All participants had mean liver enzyme levels within the normal range.
  • Mean AST levels were significantly higher in both PiZZ and PiSZ groups compared to PiMM controls (p < 0.001).
  • Mean ALT levels were higher in the PiZZ group than in controls (p < 0.05).
  • PiZZ women using oral contraceptives exhibited higher AST, ALT, and GT levels compared to control women using oral contraceptives (p < 0.01 for AST/ALT, p < 0.05 for GT).

Conclusions:

  • At age 30, individuals with PiZZ and PiSZ AAT deficiency exhibit normal transaminase levels, but these are significantly elevated compared to healthy controls.
  • The findings suggest a potential subclinical impact of AAT deficiency on liver function even in the absence of overt liver disease.
  • Oral contraceptive use appears to influence liver enzyme activity in PiZZ women, warranting further investigation.

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