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Alpha-1 antitrypsin deficiency in the elderly: a case report
Anna Annunziata1, Maurizia Lanza2, Antonietta Coppola2
1UOC Pathophysiology and Respiratory Rehabilitation, Intensive Care Department, Monaldi Hospital, Naples, Italy. anna.annunziata@gmail.com.
Journal of Medical Case Reports
|May 10, 2021
Summary
Alpha-1 antitrypsin deficiency (AATD) can be diagnosed late and mimic other lung diseases. Early suspicion and treatment, even outside standard guidelines, can improve patient outcomes.
Area of Science:
- Pulmonology
- Genetics
- Internal Medicine
Background:
- Alpha-1 antitrypsin deficiency (AATD) often presents with nonspecific respiratory symptoms, leading to delayed diagnosis and misdiagnosis as COPD, asthma, or AHR.
- Suspecting AATD in patients with unusual medical histories is crucial, as early identification and treatment may benefit individuals before significant functional decline.
Observation:
- A case report details a 69-year-old female with a late diagnosis of AATD, severe bronchial hyperreactivity, and recurrent exacerbations.
- The patient had a rare mutation and did not meet the typical FEV1 criteria (30-65%) for treatment initiation.
Findings:
- Despite not meeting standard FEV1 criteria, the patient received alpha-1 antitrypsin (AAT) augmentation therapy.
- Treatment resulted in significant clinical and functional improvement for the patient.
Implications:
- AATD should be considered in a broader range of patients, not solely based on FEV1 values.
- Individualized treatment approaches, considering clinical symptoms alongside established parameters, may be beneficial for managing AATD.
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