What is the clinical history of alpha1-antitrypsin deficiency (AATD)?

Updated: Sep 11, 2020
  • Author: Dora E Izaguirre Anariba, MD, MPH; Chief Editor: John J Oppenheimer, MD  more...
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Answer

Patients with AATD frequently develop dyspnea 20-30 years earlier (at age 30-45 y) than do smokers with emphysema and normal alpha1-antitrypsin levels.

Cigarette smoking accelerates the progression of emphysema in patients with AATD. Symptoms develop about 10 years earlier in alpha1-antitrypsin-deficient individuals who smoke regularly.

By the time dyspnea becomes the dominant manifestation and a diagnosis is established, most patients will have seen several physicians over several years. Efforts to improve the interval between the onset of symptoms and the diagnosis of AATD have been disappointing. Between 1968 and 2003, a significant improvement has not been noted in the average interval (approximately 8.3 +/- 6.9 y) and the number of medical evaluations before an initial diagnosis is made. [2, 12] It should be noted, however, that improvement has been shown in AATD detection in older individuals. [12]

Based on a large clinical population study, Bornhorst et al suggested that early diagnosis of AATD is sporadic and average age of diagnosis is 45.5 ± 9.5 years, as noted in earlier surveys. [10]

Often this diagnosis is missed, as it presents similarly to other more common illnesses such as asthma, COPD, or chronic cough. Thus, the healthcare provider must have a high level of suspicion and consider AATD in the differential diagnosis.


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