[Heterozygotic alpha-1 antitrypsin deficiency. A case report]

Area of Science:

• Hepatology
• Clinical Biochemistry
• Genetic Pathology

Background:

• Hypertransaminasemia, or elevated liver enzymes, can indicate underlying liver disease.
• Alpha-1-antitrypsin deficiency is a genetic disorder that can affect the liver and lungs.

Observation:

• A 34-year-old male presented with moderate hypertransaminasemia detected during a company screening.
• Analysis revealed an alpha-1-antitrypsin heterozygotic deficit (MZ phenotype), characterized by a flattened alpha wave on proteinogram and reduced serum levels.
• Liver biopsy showed no PAS-positive globules but did reveal rough endoplasmic reticulum (RER) dilatation with material deposition.

Findings:

• The patient's MZ phenotype for alpha-1-antitrypsin deficiency was confirmed through biochemical and electrophoretic analyses.
• Ultrastructural examination of the liver biopsy indicated RER dilatation, suggesting intracellular protein accumulation or processing abnormalities.
• The findings correlate the patient's specific phenotype with observed liver pathology, despite the absence of typical PAS-positive globules.

Implications:

• Routine serum alpha-1-antitrypsin level testing should be considered in the diagnostic workup of patients with unexplained chronic liver diseases.
• Understanding the spectrum of liver manifestations in alpha-1-antitrypsin deficiency is crucial for accurate diagnosis and management.
• This case highlights the importance of integrating clinical, biochemical, and histological data for comprehensive patient evaluation.