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  • Reviewed on 3/10
    By Dr. Sandhaus & Janis Berend, C-ANP

Alpha-1 Antitrypsin Deficiency


Diagnosis

Alpha-1 is essentially the same as any other form of COPD, so the diagnosis is made by the same methods - except for two special blood tests which determine the diagnosis of Alpha-1. Learn about general diagnosis of COPD.

The first special blood test measures the concentration of alpha-1 antitrypsin in the blood. A second blood test determines the actual gene product in the person with the disease. The normal gene is an MM genetic pattern. This leads to normal levels of alpha-1 antitrypsin in the blood. The most common abnormal genetic pattern seen with Alpha-1 is ZZ. Some people may inherit only a single gene for Alpha-1, such as MZ. The normal population that smokes have a 20% chance of developing emphysema and with the MZ genetic pattern the risk of emphysema is now 50%.

 

Genetic Counseling

Genetic counseling is important for family members of the person diagnosed with Alpha-1. Family planning issues and early interventions, such as giving up smoking, can be addressed. Screening of family members for Alpha-1 is highly recommended.

 

NEXT: Treatment

BACK: Inherited Emphysema, Index

 

More Diagnosis Information
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Alpha-1 Antitrypsin Deficiency Program

Doctors at National Jewish Health follow one of the largest groups of Alpha-1 patients in the country.

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