Inherited Emphysema?
Did you know that without the lung protector protein, known as alpha1 antitrypsin (AAT), emphysema would be almost inevitable for all of us?
Research has discovered that people born with a genetic mutation that affects this protein are more likely to develop emphysema. Nearly 5 percent of U.S. emphysema cases are due to this inherited deficiency; or about 100,000. Another 25 million-primarily of northern European descent-carry a single deficient gene and may pass it on to offspring. A recent study suggests there are at least 116 million carriers of this gene among all racial groups worldwide.
This form of emphysema often appears between 32 and 41 years of age. The deficiency can be diagnosed through blood screening and more recently through a DNA-based cheek swab.