Rare Classroom: Alpha-1 Antitrypsin Deficiency

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The rare disease that we will be learning about today is:

Alpha-1 Antitrypsin Deficiency


What is Alpha-1 Antitrypsin Deficiency?

  • Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder which can cause liver or lung disease
    • The disease can progress into serious complications, such as cirrhosis and chronic obstructive pulmonary disease (COPD)
    • Around three percent of COPD cases are linked to the disease
  • Diagnosis is based on symptoms, along with genetic tests and blood tests
  • Alpha-1 antitrypsin deficiency, while uncommon overall, is one of the most common genetic diseases worldwide
  • The disease was first described by Carl-Bertil Laurel in 1963 at the Swedish University of Lund

How Do You Get It?

  • People of Iberian and North European ancestry get alpha-1 antitrypsin deficiency at higher rates
    • In Europeans, the incidence rate is around 1 in 2,500
    • Severe symptoms occur in 1 in 5,000
    • In Asians, the disease is much less common
  • Risk factors for lung symptoms include environmental dust and tobacco smoking
  • Alpha-1 antitrypsin deficiency occurs as a result of a mutation in the gene SERPINA1, which codes for alpha-1 antitrypsin, causing proteins to accumulate in the liver
  • The mechanisms that cause lung disease and liver disease appear to be mostly unrelated; the presence of disease in one organ does not predict the presence of disease in the other

What Are The Symptoms?

  • Symptoms of alpha-1 antitrypsin deficiency primarily impact lung and/or liver function
  • In most cases, symptoms develop between age 20 and 50
  • Lung symptoms include:
    • chronic obstructive pulmonary disease (COPD)
      • Patients may develop COPD in their 30s and 40s, even without a history of smoking
      • Smoking can greatly increase risk and impact life expectancy
    • Sputum production
    • Wheezing
    • Shortness of breath
  • Liver problems can include:
    • Impaired liver function
    • Cirrhosis (liver scarring)
    • Liver failure
    • In rare cases, symptoms can appear in newborns, such as:
      • Jaundice
      • Liver failure
      • Enlarged spleen and liver
      • Poor feeding
      • Poor weight gain

How Is It Treated?

  • Treatment of alpha-1 antitrypsin deficiency can include inhaled steroids and bronchodilators
  • Antibiotics may be needed if infections occur
    • Vaccinations for hepatitis, flu, and pneumococcus are recommended
  • For severe disease, infusions of A1AT protein may be needed
    • This treatment may be able to slow or halt the progression of the disease
    • Inhaled or recombinant forms of the protein are being researched
  • Lung or liver transplant may be necessary in severe cases, particularly when organ failure is imminent
  • Alcoholic beverages and NSAIDs should be avoided by patients with liver disease
  • With proper treatment, life expectancy is normal for most patients
    • However, patients that smoke can see their life expectancy greatly decrease

Where Can I Learn More???

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