Identification and Diagnosis Can Be Delayed

AAT deficiency lacks a distinctive clinical presentation1,2

Alpha1-antitrypsin (AAT) deficiency shares an almost identical clinical presentation of signs and symptoms with COPD (which includes emphysema, asthma, and chronic bronchitis)2-4:

Patients with AAT deficiency or COPD may or may not have one or more of the symptoms listed above

In addition, AAT deficiency and COPD share many of the same evaluative tools, including spirometry, diffusing capacity, chest x-rays, chest CT, and blood gas.5

AAT deficiency is a hereditary condition and cannot be identified or diagnosed by physical examination alone.1,2 Alpha-1 should be ruled out even if the COPD patient has a smoking history.1

Carla’s Story

"It took me 30 years, 6 doctors, and 1 nurse practitioner to reach my diagnosis of alpha1-antitrypsin deficiency."

— Carla, patient living with alpha-1

Watch Carla describe the toll of her diagnostic journey and why she now advocates for other patients.

Diagnostic delays are common

Individuals may wait 8 years and visit 3 providers between their first symptom (most commonly, dyspnea) and a positive diagnosis of AAT deficiency.6

Diagnosis journey of alpha 1 antitrypsin deficiency patients may consist of 3 HCP visits and 8 years.

Identifying AAT deficiency can be improved by performing routine screening tests for every patient with COPD or treatment-resistant asthma in your practice.7

“As a genetic disorder, alpha-1 is, in my mind, a fairly low hanging fruit for any practitioner…It is a genetic disorder that is actually very simple, and very cheap,* and very easy to test for.”

— Igor Barjaktarevic, MD, PhD David Geffin School of Medicine, UCLA 

*The receipt of these free testing services does not create any expectation or obligation to purchase or use any product or service offered by any manufacturer.

AlphaID screening test kit product packaging and the instructions of use to test COPD patients for AAT deficiency.

Genetic testing is required to detect and diagnose AAT deficiency.7

Order Free AlphaID Test Kits

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References:

  1. Stoller JK. Myths and misconceptions about α1-antitrypsin deficiency. Arch Intern Med. 2009;169(6):546-550.
  2. American Thoracic Society/European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.
  3. National Organization for Rare Disorders. Alpha-1 antitrypsin deficiency. https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency/. Accessed May 1, 2024.
  4. Lascano JE, Campos MA. The important role of primary care providers in the detection of alpha-1 antitrypsin deficiency. Postgrad Med. 2017;129(8):889-895.
  5. Data on file, Alpha-1 Genetics Laboratory.
  6. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with α1-antitrypsin deficiency between 1968 and 2003. CHEST. 2005;128(3):1179-1186.
  7. Brantly M. Campos M, Davis AM, D’Armiento J, et al. Detection of alpha-1 antitrypsin deficiency: the past, present and future. Orphanet J Rare Dis. 2020;15(1):96.