What do Alpha1 lungs look like?

CAT scan of alpha-1 deficient patient

Getting tested for Alpha-1 is easy. It is diagnosed with simple blood tests. Find out about a free Grifols AlphaKit you can get from your doctor.

What does it mean to be a carrier?

What is a an Alpha-1 carrier?

Alpha-1 is a hereditary condition passed from parents to children through genes. If you have 1 abnormal gene instead of 2, you are a carrier for Alpha-1.

For the most part, there are 2 genes for each trait a person has. One gene comes from the mother, 1 from the father. People with Alpha-1 received 2 abnormal genes for making AAT, that is, the body’s instructions omitted the steps to produce and distribute AAT4.

Phenotype
AAT Blood Levels
MM (2 normal copies)20–53 µM/L150–350 Mg/dL
MZ (1 normal copy, 1 abnormal copy)12–28 µM/L90–210 Mg/dL
SS (2 marginally abnormal copies)13–27 µM/L100–210 Mg/dL
SZ (1 abnormal copy,
1 marginally abnormal copy)
10–16 µM/L75–120 Mg/dL
ZZ (2 abnormal copies)2.5–7 µM/L20–45 Mg/dL
NULLNULL (2 nonfunctional copies)0 µM/L0 Mg/dL

There are many types of abnormal AAT genes. The most common abnormal AAT genes are labeled S or Z. Normal genes are labeled M.

  • If you have 2 normal copies of the AAT gene (MM in the chart) your body should produce normal levels of AAT4
  • If you have 1 normal and 1 abnormal copy of the AAT gene (MZ in the chart) your body produces less-than-normal amounts of AAT and you are a carrier4
  • If you have 2 slightly abnormal copies of the AAT gene (SS in the chart) your body produces less-than-normal amounts of AAT and you are a carrier4
  • If you have 1 abnormal and 1 slightly abnormal copy of the AAT gene (SZ in the chart) your body produces less-than-normal amounts of AAT and you are a carrier4
  • 20% of people with SZ genes will have lung and/or liver problems like those of people with ZZ genes
  • If you have 2 abnormal copies of the AAT gene (ZZ in the chart) your body produces very little AAT and you have Alpha-14
  • If you have 2 copies of very rare nonfunctional genes (NULL in the chart) your body produces no AAT and you have Alpha-14

What to do if I’m a carrier?

Even being a carrier for Alpha-1 may result in lung disease in adults and/or liver disease in infants, children, or adults. Learn more about what you can do in terms of:

next: Lifestyle Changes >

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 is not indicated as therapy for lung disease in patients in whom severe Alpha1-PI deficiency has not been established.

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. What is Alpha-1? Alpha-1 Foundation. http://www.alphaone.org/healthcare/?c=01-What-is-Alpha-1-Healthcare. Accessed October 6, 2009.
  2. Köhnlein T, Welte T. Introduction. Alpha-1 Antitrypsin Deficiency: Clinical Aspects and Management. Bremen, Germany: Uni-Med Verlag AG; 2007:16-39.