About Alpha-1

The role of alpha-1 antitrypsin (A1AT) and the potential for progressive lung damage

  • A1AT is a protein produced primarily by hepatocytes and released into circulation by the liver1
  • A1AT functions in the lungs to inactivate neutrophil elastase, a powerful protease that contributes to the innate immune response2
  • A1AT keeps neutrophil elastase levels in check, thereby protecting the lung against alveolar wall destruction1
  • A1AT provides > 90% of the anti-neutrophil elastase protection in the lungs3
  • A1AT deficiency (AATD) results in uninhibited neutrophil elastase activity, and this imbalance can lead to lung damage, including emphysema3
Healthy Lung Deficient Lung

A1AT (squares) normally binds neutrophil elastase (light blue circles) and prevents it from damaging healthy tissue.3

Arriving at an accurate diagnosis of AATD can be a complex journey for many patients
7.8 1

A retrospective study reported that it took an average of 7.8 years between patients’ initial symptoms and a correct diagnosis of AATD.4

34 Percent

Only 34% of AATD patients reported a correct diagnosis by the first physician they saw.4

43 Percent

43% of AATD patients reported seeing at least 3 physicians before receiving a correct diagnosis.4

Diagnostic Challenges of AATD

Identifying the mechanism of disease for AATD is complicated

According to a retrospective study, the average number of years between patients’ initial symptoms and a correct diagnosis of Alpha-1 is 7.8 years.4

The delay in diagnosis that AATD patients commonly experience has been attributed to the clinical difficulty in distinguishing overlapping symptoms of AATD from those of asthma and COPD.5

Misdiagnosis of AATD may be more prevalent than you think

Additional observations suggest that while the diagnosis of AATD has increased, early detection has not improved.

  • The pulmonary manifestations of AATD include the entire spectrum of disorders associated with COPD6
  • AATD can cause COPD even in people who have never smoked7
  • An estimated 81% of patients with AATD have COPD with symptoms of asthma, chronic bronchitis, and emphysema, often in combination8
  • It is estimated that 50% of patients with AATD are clinically diagnosed with asthma once symptoms of COPD have developed9
  • Distinguishing AATD from asthma based on presentation and clinical evaluation alone is not possible9

Is there an undiscovered Alpha in your practice?

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Prevalence of AATD may be greater than you think

Genetic epidemiology studies indicate that AATD may be one of the most common serious hereditary disorders in the United States.4,10

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19 million AATD carriers in the United States

There may be as many as 19 million carriers of AATD in the United States who are unaware that they are carriers.11

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Up to 100,000 undiagnosed cases of AATD in the United States

In the United States, an estimated 100,000 individuals have AATD.4,11

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AATD may require closer examination

Reports from the American Thoracic Society and The New England Journal of Medicine acknowledge that the prevalence of AATD may be higher than most clinicians believe, estimating more than 90% of patients living with AATD have not been properly diagnosed.12

Guidelines for Screening and Diagnosis

Guidelines for screening and diagnosis of AATD may provide insights for overcoming diagnostic challenges.

The American Thoracic Society (ATS)7

ATS guidelines recommend screening every patient for AATD if you are treating ANY of the following:

  • COPD
  • Emphysema
  • Irreversible asthma
  • Unexplained liver disease
  • Asymptomatic persistent obstruction on pulmonary function tests with known risk factors
  • Necrotizing panniculitis

ATS also recommends screening and testing for:

  • Siblings of an individual with AATD
  • Offspring, parents, or distant relatives of an individual with AATD

Journal of the COPD Foundation6

In 2016, the Journal of the COPD Foundation published more concise guidelines for screening and diagnosis of AATD. Testing is recommended for:

  • All individuals with COPD regardless of age or ethnicity
    • There are no specific demographic or clinical characteristics that rule out the diagnosis of AATD
  • All individuals with unexplained liver disease
  • All individuals with necrotizing panniculitis, granulomatosis with polyangiitis (GPA), or unexplained bronchiectasis
  • Parents, children, siblings, and extended family members of individuals identified with an abnormal A1AT gene

Clinical evaluation and early detection6

The 2016 Journal of the COPD Foundation also provides recommendations for clinical evaluation of AATD:

  • Clinical evaluation of an individual with AATD should focus on early detection and follow-up of associated conditions
  • Initial evaluation with complete lung-function testing is recommended for all patients with AATD
    • Annual spirometry tests for AATD patients with normal spirometry at baseline
  • Baseline chest CT scan in newly diagnosed symptomatic patients and/or patients with abnormal pulmonary function testing
  • Monitoring for liver disease at annual intervals
    • Liver disease typically restricted to ZZ and SZ individuals

Benefits of Early AATD Diagnosis

Early diagnosis of Alpha-1 can help patients:

  • Begin the dialogue and continue the discussion with their doctors about living with Alpha-1
  • Ensure that family members who may be at risk are identified and tested
  • Implement lifestyle changes that could improve their lives
    • Average age of diagnosis for AATD individuals is 45.5 years4
  • Appropriate prescribing of augmentation therapy at earlier stages of lung disease
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Early diagnosis may encourage smoking cessation for some patients

Multiple studies show that providing education on AATD status to individuals identified at birth helps reduce smoking rates in this population.13,14

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