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Summary
Alpha 1-antitrypsin deficiency presents unique challenges. This study details three adult cases, highlighting unusual liver and lung manifestations in genetically determined deficiency and stressing the importance of phenotyping for accurate diagnosis.
Area of Science:
- Pulmonology
- Hepatology
- Medical Genetics
Background:
- Alpha 1-antitrypsin deficiency (AATD) is a genetic disorder that can lead to lung and liver disease.
- Unusual presentations of AATD can complicate diagnosis and management.
- Accurate diagnostic methods, including phenotyping, are crucial for distinguishing true deficiency from other conditions.