Q. I've had Pulmonary Function Tests but I don't know what they mean?

A. Pulmonary function tests (also called PFTs) are carried out in order to investigate lung health.  The tests consist of blowing into machines that are connected to computer systems. The main tests measure how quickly you can blow air out of your lungs, how much air is being trapped in your lungs and how well the exchange of gases is taking place within the lungs. Before the tests are carried out patients will be measured and their height, age and sex entered into the computer. Tables exist that allow the computer to compare the test results to a stored set of 'predicted values' that are based on age, sex, height and 'ethnicity'. The information provided by doing these tests allows the doctor to assess the health and status of your lungs. 

Q. Is haemochromatosis related to Alpha-1 as both affect the liver and there are a few Alpha-1 patients who also suffer from this condition?

A. Haemochromatosis and alpha-1 antitrypsin deficiency are both genetically acquired conditions. Both are most common in North Europe, particularly England, Ireland and Scandinavia. However, there is no evidence that there is an association between the two conditions. The reason why some patients have both conditions is due to the fact that they are both relatively common in Ireland. It is not due to an underlying link between the two conditions. Nevertheless, having both conditions may sometimes lead to faster progression and/or increased severity of liver disease.

Q. Is dry and itchy skin a symptom of Alpha-1 and if so, why?

A. There are a number of skin conditions reported to be associated with alpha-1 antitrypsin deficiency, but most of them are rare. These range from panniculitis – inflammation of the hair follicles to vasculitis – inflammation of the blood vessels. All of these can result in a rash which is typically red, raised and can be itchy. It can be quite painful. It is most commonly seen in ZZ individuals, but it is estimated to affect less than 2% of . The exact mechanism for the development of these skin manifestations is unknown, but it generally responds to treatment with replacement therapy – there are several studies to show this, can provide if required.

Q. What is the risk of lung problems in MZ carriers?

A. The strongest predictor of lung disease is smoking history. We do know that if an MZ individual smokes their risk of developing lung disease is increased by a factor of 5.  As yet, we do not have conclusive evidence about whether MZ individuals would develop lung problems if they never smoked.  The Alpha One Foundation conducts a national targeted detection programme which aims to identify and closely monitor all Alpha-1 individuals, both MZ carriers and ZZ and SZ individuals.  Above all, the most important thing to remember is that cigarette smoke is the biggest risk factor for lung disease in Alpha-1 so stopping smoking is the most important decision someone with Alpha-1 will make.


Family support

Q. What do I tell family members?

A. We recommend that you inform blood relatives of the test result because of the genetic nature of the disorder.

Q. Should I urge family members to be tested?

A. After consulting with your doctor, it is reasonable to encourage your blood relatives to seek advice about getting tested. Because of the genetic nature of Alpha-1, your blood relatives could be carriers or have the disorder themselves and early detection is vital to help prevent disease. Genetic counselling is provided by the Alpha One Foundation for family members.


Health insurance

Q. Will the Alpha-1 diagnosis affect my health insurance?

A. Under the terms of the Disability Act 2005 (Part 4, Section 2) it is illegal to use (process) the results of genetic testing for Insurance, Life Assurance or Mortgage purposes

( This also applies in the case of employment, health insurance and occupational pension. In other words, genetic discrimination is illegal in Ireland. What will be considered when a person is looking for a pension or health insurance will be the usual criteria:

• Health history (symptomatic)

• Smoking status

• Usual family history questions



Q. Can I continue to work?

A. The answer to this question usually depends upon two conditions:

• The present state of your health, and

• The possibility of unwanted airborne exposures such as dust and fumes at work, or other hazardous chemicals that might be in contact with your skin. Work is good for your psychological and emotional well-being. If, after discussion with your doctor, you are physically able to do so and can avoid occupational hazards, you should continue to work.

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