Alpha-1 Antitrypsin Deficiency

Check with your local Pulmunologist for AATD and be secure.

People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20 and 50. Affecting one in 2,500, AATD is definitely a worry of many married couples.

But before you should worry, the science behind the deficiency must be understood first. The disorder is inherited in families from an autosomal codominant pattern. The exact gene that is the cause of the deficiency is called the SERPINA1 gene, which is located in the chromosome 14q32. The young that inherit the both of the mutated Z alleles produced are generally named "Type PiZZ" in the science field. This individual has very low alpha-1 antitrypsin levels. Alpha-1 antitrypsin is what protects your lungs from the destructive enzyme elastase, which is the cause of the complications associated.

But what is so bad about this deficiency of Alpha-1?

The deficiency causes many lung and liver complications to surface:
  • Cirrhosis
  • COPD
  • Pneumothorax
  • Asthma
  • Wegener's granulomatosis
  • Pancreatitis
  • Gallstones
  • Bronchiectasis
  • Primary sclerosing cholangitis
  • Autoimmune hepatitis
  • Emphysema
Symptoms of oncoming Alpha-1 include:
  • Shortness of breath
  • Wheezing
  • Chronic Bronchitis
  • Recurring chest colds
  • Rhonchi
  • Untreatable asthma
  • Year-round allergies
  • Rales

Getting Tested, Treatment, and Research for a Cure.

The Medical University of South Carolina has set up a research an testing study named the Alpha-1 Coded Testing (ACT) Study. The therapy for the treatment of Alpha-1-related lung disease is augmentation therapy - also called replacement therapy. Augmentation therapy is the use of alpha-1 antitrypsin protein (AAT) from the blood plasma of healthy human donors to increase the alpha-1 levels circulating in the blood and lungs of Alphas diagnosed with emphysema. The therapy is administered by a weekly infusion and, until other therapies become available, is ongoing and lifelong. The Alpha-1 Foundation has invested more than $50 million to support alpha-1 antitrypsin research and programs. Research projects have been conducted at 97 places in North America, Europe, the Middle East, and Australia. The level of research activity in AAT is at an all-time high and holds much hope for the future for individuals diagnosed with the deficiency.