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Alpha-1-antitrypsin deficiency in a large sibship
M Apprill1, M L North, R Mirhom
1Laboratoire d'Explorations Fonctionnelles Respiratoires, Strasbourg, France.
Respiration; International Review of Thoracic Diseases
|January 1, 1990
Summary
Alpha-1 antitrypsin deficiency (AATD) with PiZZ phenotype can lead to emphysema. Smoking exacerbates AATD, causing earlier onset and increased severity of emphysema in individuals with the PiZZ genotype.
Area of Science:
- Pulmonology
- Genetics
- Internal Medicine
Background:
- Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder that can cause lung disease.
- The PiZZ phenotype is a severe genotype associated with AATD.
Observation:
- A family study of 10 siblings included 3 individuals with the PiZZ phenotype.
- Only one PiZZ sibling developed emphysema, and this individual was a heavy smoker.
- Two PiZZ siblings had no respiratory symptoms.
Findings:
- The presence of emphysema in a PiZZ phenotype individual correlated with heavy smoking.
- This case suggests smoking accelerates and worsens emphysema in PiZZ AATD patients.
Implications:
- Smoking cessation is crucial for individuals with PiZZ AATD to prevent or delay emphysema.
- Early genetic screening and counseling for AATD may be beneficial for families with affected members.