What is Alpha-1 Antitrypsin Deficiency?
How is the Deficiency Inherited?
Are You at Risk?
How is the Deficiency Harmful?
Symptoms of Alpha-1 Antitrypsin Deficiency
Testing for Alpha-1 Antitrypsin Deficiency
Treatment of Alpha-1 Antitrypsin Deficiency
Smoking and Alpha-1 Antitrypsin Deficiency Antitrypsin Deficiency

What is Alpha-1 Antitrypsin Deficiency?

This is a rare inherited form of emphysema, and is called alpha-1 antitrypsin (A₁AT) deficiency-related emphysema, or early onset of emphysema. This form of the disease is caused by an inherited lack of protective protein in a person’s blood, which protects the lungs from germs, dust, air pollution, cigarette smoke and other inhaled irritants. Without an adequate supply of A₁AT, substances in the white blood cells can damage the tissues of the body. It is estimated that 50,00 to 100,000 Americans living today were born with this deficiency.

A pair of genes causes it and one of these is derived from each of your parents. A person does not have the disease unless they inherit two genes. People who have only one gene do not have the disease, but they are “carriers” of the deficiency. Their alpha-1 antitrypsin levels are lower than normal, but this does not cause any obvious health problems.

Are You at Risk?

You are at risk of A₁AT deficiency if you have a family history of A₁AT deficiency, lung or liver disease or any of these medical problems:

· COPD

· Emphysema

· Bronchiectasis

· Chronic bronchitis

· Asthma

· Chronic liver disease

How is the Deficiency Harmful?

Lung problems: White blood cells are present in the lungs and have an important part in removing dust and fighting infections. Chemicals released by white blood cells can damage the air sacs in the lungs when the protection from alpha-1 antitrypsin is less than normal. Injury to the lungs (over many years) from the chemicals in white blood cells can cause the air sacs to break down, and emphysema will result.

Liver problems: Alpha-1 antitrypsin is made in your liver. The deficiency causes a mild strain on your liver, which may or may not cause noticeable health problems. Patients with the deficiency may have liver problems after birth or beginning in middle age.

Symptoms of Alpha-1 Antitrypsin Deficiency

· Coughing

· Frequent and long lasting lung infections

· Sputum (or phlegm) production

· History of allergies or asthma

People with Alpha-1 antitrypsin deficiency might not show any signs of the deficiency for several years, this does not mean that they will not have symptoms later on. Carriers are those who have the gene, but do not show symptoms.

Testing for Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin is detected by a simple blood test that will determine the level of AAT present in your blood. This tests your blood for certain proteins that indicate whether or not you have the deficiency. You would also have tests that evaluate your lung and liver functions. These would include Pulmonary Function Tests, chest x-rays and arterial blood gases. Your doctor may repeat these tests over time to evaluate your progress or to test the effects of treatment.

Treatment of Alpha-1 Antitrypsin Deficiency

Treatment for A₁AT deficiency is usually done with an Alpha-1 Proteinase Inhibitor. You and your physician will decide on the appropriate treatment for your current medical state and evaluate various treatment options.

Smoking and Alpha-1 Antitrypsin Deficiency

You absolutely must not smoke! Smoking attracts white blood cells to the lungs in large numbers and can cause or speed up the development of lung disease.