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.

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.