A - C

Allele: Another general name for the altered form of a gene. For example, the Z allele is an altered form of the M gene. There are many different alpha-1 gene alleles.

Alpha-1 Antitrypsin Protein: The alpha-1 antitrypsin (AAT) protein is primarily made in the liver, which releases it into the bloodstream in typical individuals. The alpha-1 protein has many functions, one of which is to protect delicate tissue in the body from being destroyed by neutrophil elastase, a tissue-digesting enzyme most commonly found in circulating white blood cells. These enzymes are released into tissue when the white blood cells fight infection.

Alpha-1 Antitrypsin Deficiency (Alpha-1): A genetic condition caused by the inability to pass the AAT protein out of the liver, which creates a deficiency throughout the body. People with Alpha-1 might develop liver problems or lung diseases such as emphysema, or a skin disorder known as panniculitis. Others do not have any symptoms or illness.

Ascites: Fluid collection in the abdomen.

Antibiotics: Antibiotics are drugs that can kill or stop the growth of bacteria. Sometimes the term is
used to describe drugs that can treat any infections such as those caused by bacteria, fungus,
tuberculosis, and even viruses.

Asthma: A condition of the lungs characterized by widespread narrowing of the airways due to spasm of the smooth muscle, swelling of the mucous membrane lining the respiratory tract, and the presence of mucus in the inner spaces of the airway branches leading to the lungs.

Augmentation Therapy: Intravenous administration of the alpha-1 antitrypsin protein purified from human blood.

Bilirubin: Bilirubin is a by-product of red blood cell breakdown that is normally formed in the liver. It creates the yellow tinge of normal serum, the yellow-green hue of bile, the brown color in stools, and the yellow color of urine. When the liver is not functioning normally, the bilirubin level can rise, which causes jaundice, a yellowing of the eyes and skin.

Biopsy: The term biopsy is used to describe both a procedure to remove tissue from an organ or a piece of tissue that is being examined under a microscope. There are three basic types of biopsies: a fine needle biopsy, a core needle biopsy, and a wedge biopsy.

Bronchiectasis: Chronic dilation or widening of the bronchial tubes within the lung signals bronchiectasis. It is often caused by inflammatory diseases or obstruction and leads to chronic lung infection.

Cholestasis: A backup of bile in the liver; may result in jaundice, dark urine, pale stools, and itching.

Chronic Bronchitis: A lung disease characterized by inability to move air in and out of the lung combined with the production of sputum on most days of the year. This is one of the diseases caused by cigarette smoking.

Chronic Obstructive Pulmonary Disease (COPD): COPD is a broad category of lung problems
including emphysema, chronic bronchitis, bronchiectasis, and chronic asthma in adults. A main component of all these diseases is the obstruction of inhalation and exhalation. COPD is responsible for more than 100,000 deaths each year and is the fourth leading cause of death in the United States.

Cirrhosis: Cirrhosis is extensive scarring and hardening of the liver. This condition is most often associated with advanced liver disease.

Corticosteroids (Steroids, Prednisone): A class of drugs modeled after hormones released by the body’s adrenal glands. They are the most potent anti-inflammation drugs currently available and can be lifesaving to people with severe COPD and asthma, but they’re also known for having serious side effects.

What is Alpha-1 Antitrypsin?
Alpha-1 antitrypsin is a vital protein produced by the liver to protect the lungs. It provides protection from the harmful effects of infections and inhaled irritants, particularly tobacco smoke. It can be easily measured by a simple blood test. 
What is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic condition which, after cystic fibrosis, is the commonest genetic disorder in Ireland. It severely affects more than 15,000 people, with another 250,000 carriers also at risk of lung and liver disease on the island of Ireland. It is a proven genetic risk factor for chronic obstructive pulmonary disease (COPD).
How Do I Get Tested?
The Alpha One Foundation provides free testing for Alpha-1 as part of a national screening programme which is funded by the HSE. For more details ring 01-8093871 or email alpha1@rcsi.ie.