[Delayed diagnosis of alpha-1 antitrypsin deficiency]

Area of Science:

• Genetics
• Pulmonology
• Hepatology

Background:

• Alpha-1 antitrypsin deficiency (AAT-D) is a prevalent genetic disorder, particularly in individuals of European descent.
• Many patients with AAT-D experience delayed diagnoses, often years after symptom onset, impacting respiratory and liver health.
• Diagnosis is achievable through serum protein level measurement, confirmed by genotype or phenotype analysis for low AAT levels.

Observation:

• A case study highlights a 69-year-old woman with persistent asthma and recurrent respiratory infections.
• Her serum AAT levels were significantly below the normal range, with confirmed ZZ genotype.
• This case underscores the diagnostic challenges and delays common in AAT-D.

Findings:

• Serum AAT levels below the normal range, coupled with ZZ genotype, confirm Alpha-1 antitrypsin deficiency.
• The patient's symptoms of recurrent respiratory infections and asthma were consistent with AAT-D.
• Delayed diagnosis in this case highlights a broader issue within the medical community.

Implications:

• Increased awareness among healthcare providers regarding AAT-D is essential, especially in patients presenting with asthma or COPD symptoms.
• Timely diagnosis and monitoring of AAT-D can significantly improve patient prognosis by enabling proactive management of lung and liver disease.
• Routine screening for AAT-D in individuals with suggestive respiratory symptoms could reduce diagnostic delays and improve outcomes.