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Labelling Alpha-1 antitrypsin deficiency in the medical record – A call to action

  • Leonard Riley
    Correspondence
    Corresponding author. University of Florida, Division of Pulmonary, Critical Care and Sleep Medicine, 1600 SW Archer Rd, M452, Gainesville, FL, 32610, USA.
    Affiliations
    Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine, Malcom Randal Veterans Affairs Medical Center, Gainesville, FL, USA

    Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida College of Medicine, Gainesville, FL, USA
    Search for articles by this author
  • Jorge Lascano
    Affiliations
    Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine, Malcom Randal Veterans Affairs Medical Center, Gainesville, FL, USA
    Search for articles by this author
Published:January 31, 2022DOI:https://doi.org/10.1016/j.rmed.2022.106749

      Highlights

      • Severe alpha-1 antitrypsin deficiency is defined as a serum AAT levels ≤56 mg/dL.
      • We describe a population of severe and non-severe AATD.
      • Demonstrate that patients are mislabeled as AATD in the medical record.
      • We propose severe and non-severe AATD terms for future research and patient care.

      Abstract

      Alpha-1 antitrypsin deficiency (AATD) is an autosomal codominant genetic cause of chronic obstructive pulmonary disease (COPD) with over 100 allelic variants described. The normal allele is termed “M”; whereas, the “Z” and “S” alleles are the most common abnormal alleles. The ZZ combination accounts for 95% of cases with severe disease. We described the characteristics of patients given the label of AATD in the medical record. Our analysis found there is significant heterogeneity with regards to labelling subjects with AATD in the medical record, and this was true irrespective of the subjects age, gender, PFT measurements, tobacco pack years, or if the physician was a pulmonologist. In summary, this study highlights the need for continued investigation of the role of other mutations developing disease and options for more specific labelling of subjects with non-severe AATD and severe AATD to provide additional clarity for the patient and healthcare providers.

      Keywords

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      References

        • Silva D.
        • Oliveira M.J.
        • Guimarães M.
        • Lima R.
        • Gomes S.
        • Seixas S.
        Alpha-1-antitrypsin (SERPINA1) mutation spectrum: three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
        Respir. Med. 2016; 116: 8-18
        • Greene C.M.
        • Marciniak S.J.
        • Teckman J.
        • Ferrarotti I.
        • Brantly M.L.
        • Lomas D.A.
        • Stoller J.K.
        • McElvaney N.G.
        α1-Antitrypsin deficiency.
        Nat. Rev. Dis. Prim. 2016; 2: 16051
      1. American thoracic society/European respiratory society statement.
        Am. J. Respir. Crit. Care Med. 2003; 168: 818-900
        • Brantly M.
        • Campos M.
        • Davis A.M.
        • D'Armiento J.
        • Goodman K.
        • Hanna K.
        • O'Day M.
        • Queenan J.
        • Sandhaus R.
        • Stoller J.
        • Strange C.
        • Teckman J.
        • Wanner A.
        Detection of alpha-1 antitrypsin deficiency: the past, present and future.
        Orphanet J. Rare Dis. 2020; 15: 96
        • Ashenhurst J.R.
        • Nhan H.
        • Shelton J.F.
        • Wu S.
        • Tung J.Y.
        • Elson S.L.
        • Stoller J.K.
        Prevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Healthcare Engagement Among Direct-To-Consumer Recipients of a Personalized Genetic Risk Report.
        CHEST, 2021
        • Foreman M.G.
        • Wilson C.
        • DeMeo D.L.
        • Hersh C.P.
        • Beaty T.H.
        • Cho M.H.
        • Ziniti J.
        • Curran-Everett D.
        • Criner G.
        • Hokanson J.E.
        • Brantly M.
        • Rouhani F.N.
        • Sandhaus R.A.
        • Crapo J.D.
        • Silverman E.K.
        Alpha-1 antitrypsin PiMZ genotype is associated with chronic obstructive pulmonary disease in two racial groups.
        Ann. Am. Thorac. Soc. 2017; 14: 1280-1287
        • Gildea T.R.
        • Shermock K.M.
        • Singer M.E.
        • Stoller J.K.
        Cost-effectiveness analysis of augmentation therapy for severe α1-antitrypsin deficiency.
        Am. J. Respir. Crit. Care Med. 2003; 167: 1387-1392