Diagnosis

Inherited emphysema 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 inherited emphysema. 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. Healthy people have an MM genetic pattern. This leads to normal levels of alpha-1 antitrypsin in the blood. The most common abnormal genetic pattern seen with inherited emphysema is ZZ. Some people may inherit only a single gene for inherited emphysema, such as MZ. Individuals carrying a single abnormal gene for Alpha-1 have only a slightly increased risk of emphysema.

 

Genetic Counseling

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

 

NEXT: Treatment

BACK: Inherited Emphysema, Index

This information has been approved by Robert Sandhaus, MD, and Janis Berend RN, MSN, C-ANP (January 2007).