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.


E - L

Emphysema: A lung disease that involves damage to the alveoli or air sacs in the lungs. In emphysema, the damaged air sacs do not deflate normally so breathing is harder. Lungs with emphysema may be slow to expel used-up air and unable to fill with enough fresh air to ensure an adequate oxygen supply to the body. In Alphas, the lungs actually become hyper inflated or enlarged, and the emphysema occurs mainly in the lower lungs since that is where most of the AAT-deficient blood flows. Smoking related emphysema is usually in the upper lungs. An Alpha who smokes or has smoked may have emphysema throughout their lungs.

Esophageal Varices: Enlarged veins in the esophagus resulting from the increased pressure in the portal vein through which blood flows into the liver. This commonly occurs in cirrhosis.

Fibrosis Of The Liver: The presence of scar tissue made of collagen within the framework of the liver tissue. When the liver is badly scarred, the organ will not function properly.

Genes: Genes are sections of DNA that determine specific human characteristics; 25,000 genes exist. Each parent gives you one gene that can alone, or in combination, result in certain characteristics. Genes also hold the instructions for making proteins, each of which has a different function in the body.

Genotype: The human genome is a very long complex combination of gene sequences. The genotype is a description of the variation of the sequence of a particular gene. The specific change in an individual’s alpha-1 gene sequence, known as a genotype, determines their specific characteristics,
which is their phenotype.

Hepatitis: Inflammation of the liver which can be caused by viruses, abnormalities of the immune system, and medications, as well as Alpha-1.

Hepatomegaly: Enlargement of the liver. In some cases, the liver can be felt below the rib cage.

Hepatosplenomegaly: Enlargement of the liver and the spleen.

Heterozygote/Homozygote: Every cell of the body is composed of genes and every gene is actually a pair of alleles, one from the father and one from the mother. If your mother and father each give you the same allele, this gene is called a homozygote. If your mother and father each give you a different allele, this gene is called a heterozygote. Heterozygotes most often have one normal allele (M) and one abnormal allele (Z), a combination known as MZ. Alphas that are homozygotes have two abnormal genes, such as ZZ.

Icteric: Yellowing of the whites of the eyes associated with jaundice.

Influenza: Commonly known as the flu, influenza is an acute, contagious viral infection, commonly occurring in epidemics. It is characterized by inflammation of the respiratory tract and by the sudden onset of fever, chills, muscular pain, headache and severe fatigue.

Jaundice: A condition characterized by a yellowish tint of the skin, white portion of the eye, tissue lining of the mouth, and body fluids due to excess bilirubin in the blood.

Liver Enzymes: Proteins (specifically enzymes) found in high concentration in the liver and lower amounts in the blood and body tissue. The enzymes are released into the blood when liver cells are injured. Doctors can measure the amount of enzyme released from cells and estimate the extent of liver damage using the AST (or SGOT), ALT (or SGPT), alkaline phosphatase, and GGT-P tests. There are other blood tests to monitor liver function that are commonly performed as well.


M - V

Micromolar: Abbreviated as μM, it is used to designate the amounts of alpha-1 antitrypsin protein when serum levels are tested. A person is considered deficient in AAT protein when their serum level is 11 μM or below.

Panniculitis: Panniculitis is an inflammation within the layers of fat beneath the skin which causes the skin to may harden and form extremely painful lumps, patches, or lesions. It is likely that the damage is initiated by destructive action of unrestrained neutrophils. In some patients, damage from panniculitis occur after an incident of trauma to the affected area. It occurs in children as well as adults, and has been linked to the ZZ and MZ phenotypes and possibly other alleles as well.

Phenotype: The specific characteristic or type of ATT protein circulating in your blood; it is genetically determined by the alpha-1 genes received from your mother and father at birth. Other environmental factors may affect these characteristics.

Phlegm: Thick, sticky, stringy mucus secreted by the mucous membrane of the respiratory tract, as during a cold or other respiratory infection.

Pneumonia: An acute or chronic disease marked by inflammation of the lungs and caused by viruses, bacteria, or other microorganisms and sometimes by physical and chemical irritants.

Portal Hypertension: Blood flows from veins in the stomach, intestines, spleen and pancreas and goes into the liver through the portal vein. When the liver is diseased and unable to function properly, this blood flow is impaired, and pressure builds in the portal vein, which can cause a number of problems. This condition is known as portal hypertension.

Pruritus: Medical term for itching.

Sclerotherapy: A procedure that may be used in the treatment of bleeding from varices in the oesophagus. Intravenous medication is injected directly into the enlarged veins to stop the bleeding.

Spleen: An organ that is a part of the lymphatic system in the human body. It functions as the body’s defense mechanism, is involved in the formation and destruction of certain blood cells, and acts as a blood reservoir. Blood from the spleen goes into the liver.

Splenomegaly: Splenomegaly, an enlarged spleen, occurs when the spleen has a disease or when portal hypertension develops due to liver disease.

Sputum: Matter coughed up and usually expelled from the mouth, especially mucus or pus that is expectorated (ejected or spit) in diseases of the air passages.

TPN: Total Parenteral Nutrition (TPN) is the administration of nutritionally-adequate solution intravenously; TPN may become necessary to provide nutrition to individuals with severe liver damage.

Vitamins A, D, E, K: Fat-soluble vitamins that are necessary for proper nutrition and are frequently prescribed as dietary supplements when severe liver disease prevents their absorption into the blood stream.

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.