Upon diagnosis Alpha-1 patients can be fast-tracked to the National Alpha-1 Clinic in Beaumont Hospital for medical assessment, follow-up care and genetic counselling. The specialist Alpha-1 Clinic started in Beaumont Hospital in March 2010. Every Wednesday afternoon 10-15 patients are seen in the clinic, some of which are return visits and others new referrals. We welcome referrals from all other hospitals and GP practices around the country. At the clinic Alpha-1 individuals can also be assessed for clinical trial enrolment by the clinical research nurse. During their medical assessment a number of investigations may be ordered to investigate their respiratory and hepatic (liver) status.

Pulmonary Function Tests

Pulmonary function tests are a group of tests that measure how well the lungs take in and release air and how well they move gases such as oxygen from the atmosphere into the body’s circulation.

How the Test is Performed?

In a spirometry test, you breathe into a mouthpiece that is connected to an instrument called a spirometer. The spirometer records the amount and the rate of air that you breathe in and out over a period of time. For some of the test measurements, you can breathe normally and quietly. Other tests require forced inhalation or exhalation after a deep breath. Lung volume measurement can be done in two ways:

• The most accurate way is to sit in a sealed, clear box that looks like a telephone booth (body plethysmograph) while breathing in and out into a mouthpiece. Changes in pressure inside the box help determine the lung volume.
• Lung volume can also be measured when you breathe nitrogen or helium gas through a tube for a certain period of time. The concentration of the gas in a chamber attached to the tube is measured to estimate the lung volume.

To measure diffusion capacity, you breathe a harmless gas for a very short time, often one breath. The concentration of the gas in the air you breathe out is measured. The difference in the amount of gas inhaled and exhaled measures how effectively gas travels from the lungs into the blood.

Results

Normal values are based upon your age, height, ethnicity, and sex. Normal results are expressed as a percentage. A value is usually considered abnormal if it is less than 80% of your predicted value. Normal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results (Manson et al, 2005).

CT Scan of Thorax

CT (Computerized Tomography) of Thorax (chest/lungs) scanning — sometimes called CAT scanning—is a non-invasive medical test that helps physicians diagnose and treat lung conditions. CT scanning combines special x-ray equipment with sophisticated computers to produce multiple images or pictures of the inside of the body. These cross-sectional images of the lungs can then be examined on a computer monitor, printed or transferred to a CD. CT scans of the lungs provide greater clarity and reveal more details of the lungs than regular x-ray exams.

Ultrasound of the Abdomen

Ultrasound imaging, also called ultrasound scanning, involves exposing part of the body (abdomen/liver) to high-frequency sound waves to produce pictures of the inside of the body. Because ultrasound images are captured in real-time, they can show the structure and movement of the body’s internal organs (abdomen/liver), as well as blood flowing through blood vessels. Ultrasound imaging is a non-invasive medical test that helps physicians assess, diagnose and treat medical conditions.

Genetic Counselling

Genetic counselling can inform individuals about their condition and how they inherited Alpha-1 and which family members may be affected. This is aimed at individuals who are diagnosed with Alpha-1 and also family members who would like to discuss the condition and those who may be concerned that they might be affected. Many people want to know of their own chance of inheriting or passing on a genetic condition in their family. All aspects of the reasons for testing are discussed with the individual.