A new single-center study published in Respiratory Medicine recommends more precise medical record labeling of patients with alpha-1 antitrypsin deficiency (AATD), with the aim of providing greater clarity to healthcare providers and better treatment to patients.

According to the research team, patient characteristics such as severe or nonsevere AATD, alpha-1 antitrypsin (AAT) levels, carrier status, and lifestyle factors are all important in providing appropriate genetic counseling, optimizing treatment, and facilitating ongoing research into the disease.

“There may be benefits to labeling the non-severe AATD in the medical record since there are several allelic combinations still being investigated,” the researchers explained. “Identifying carriers and labeling their status in the problem list also provides the opportunity to discuss genetic counseling and continued research on this at-risk cohort.”

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Read more about differential diagnosis in AATD

Beyond the benefits of correct labeling, the authors noted distinct disadvantages to incorrectly labeling or diagnosing patients with AATD. Suggestive symptoms and family medical history, along with the current popularity of at-home genetic testing, have increased the potential for misdiagnosis, and there is a lack of clarity around certain allelic combinations that are still under investigation.

For example, over 100 allelic variations have been reported in AATD, and patients with the PI*MZ allelic combination are reported to be at greater risk of chronic obstructive pulmonary disease (COPD) than non-Z carriers; however, the impact of AAT levels on patients with PI*MZ is still unclear. Furthermore, patients who are mislabeled or misdiagnosed may undergo expensive and unnecessary treatments such as augmentation therapy, which is only appropriate for a very specific subgroup of patients with AATD.

In addition to continuing ongoing research into AATD and the heterogeneity of patients with the condition, the authors recommend more specific coding and identification of patients in medical records to facilitate this research and improve patient outcomes.


Riley L, Lascano J. Labelling alpha-1 antitrypsin deficiency in the medical record – a call to action. Respir Med. Published online February 1, 2022. doi:10.1016/j.rmed.2022.106749