Should your family be tested?

The American Thoracic Society recommends testing for siblings of people with Alpha-1 or carriers of AAT genes. NIH advises testing for family members who may be at risk. Find out who in your family may be at risk. Learn about family testing for Alpha-1.

Who/Why/How To Test for Alpha-1?

Who should be tested for Alpha-1?

Several medical organizations recommend similar Alpha-1 testing guidelines. Here’s a brief summary of those guidelines from the American Thoracic Society (physicians who focus on illness of the chest).

American Thoracic Society (ATS) Guidelines

ATS guidelines recommend testing a broad range of patients with lung conditions:1

  • All adults with symptomatic emphysema regardless of smoking history
  • All adults with symptomatic COPD regardless of smoking history
  • All adults with symptomatic asthma whose airflow obstruction is incompletely reversible after bronchodilator therapy
  • Asymptomatic patients with persistent obstruction on pulmonary function tests with identifiable risk factors (smoking, occupational exposure, etc.)
  • Consider testing of asymptomatic individuals with persistent airflow obstruction without risk factors (no smoking or no known occupational exposure, etc.)

ATS guidelines also provide guidance on testing family members of Alphas:

  • Test all siblings of Alphas
  • Consider testing of offspring, parents or distant relatives of Alphas

The National Institutes of Health (NIH) advises testing similar patient types.2:

Read the NIH Statement on the Diagnosis and Management of Individuals with Alpha1-Antitrypsin Deficiency on the NIH website.

Why test for Alpha-1?

Testing for Alpha-1 increases the knowledge of your personal risk of lung disease and other complications. You also gain a broader base of knowledge on which to base future healthcare decisions.

Testing allows you to do things and take steps that may slow the progression of your Alpha-1. Knowing whether you have severe Alpha-1, or are simply a carrier of the Alpha-1 gene, helps you and your family make decisions about work, lifestyle, and having children.

Discuss the advantages and disadvantages of testing with your healthcare provider.

How do you test for Alpha-1?

First, contact your doctor and see if Alpha-1 testing is right for you. If you and your doctor agree that testing would be valuable, you need to:

  • Have the level of AAT in your blood measured
  • Have your DNA tested to see if you carry 1 or 2 abnormal genes for Alpha-1

Modern testing methods are simple, quick, and accurate. They enable diagnosis of Alpha-1 from a few drops of blood dried onto a piece of filter paper.

Testing for Alpha-1

Alpha-1 can be diagnosed with simple blood tests. Ask your doctor about a free Talecris AlphaKit that can tell if you have Alpha-1.

next: Family Testing for Alpha-1 >

Important Safety Information
Prolastin-C, Alpha1-Proteinase Inhibitor (Human) is for adults who have emphysema caused by inherited alpha1-antitrypsin deficiency. The effect of therapy with any alpha1-proteinase inhibitor (alpha1-PI) on pulmonary exacerbations and on the progression of emphysema in alpha1-antitrypsin deficiency has not been demonstrated in randomized, controlled clinical trials.

Prolastin-C may contain trace amounts of IgA. IgA deficient patients with antibodies against IgA should not receive Prolastin-C due to the risk of hypersensitivity.

The most common side effects during clinical trials with Prolastin-C were chills, a general feeling of being unwell, headache, rash, hot flush, and itching.

Prolastin-C is made from human plasma. Products made from human plasma may carry a risk of transmitting infectious agents, e.g., viruses, and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent.

Please see accompanying Prolastin-C Full Prescribing Information for complete prescribing details.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch or call 1-800-FDA-1088.

References
  1. American Thoracic Society/European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.
  2. National Institutes of Health. Who is at risk for alpha-1 antitrypsin deficiency? www.nhlbi.nih.gov/health/dci/Diseases/aat/aat_risks.html. Accessed May 15, 2009.