Alpha1 Antitrypsin Deficiency: The Undiagnosed Killer

September 1, 2022

Alpha-1 Antitrypsin Deficiency is currently the #1 genetic killer of adults—not because it's untreatable, but because it's rarely tested for. This life-threatening condition is highly manageable when detected early, yet millions remain undiagnosed.

Today, Alpha-1 Antitrypsin Deficiency is classified as an orphan disease in the United States, meaning it is believed to affect fewer than 200,000 people. However, this classification is misleading. Current testing guidelines identify only a fraction of those impacted—fewer than 10,000 diagnosed cases worldwide since being discovered in 1963.

The reality? Experts estimate that as many as 15 million Americans may carry this genetic condition. As proper testing becomes standard practice, Alpha-1 will no longer be considered rare. Until then, countless lives remain at risk.

The Hidden Danger in "Perfect" Test Results

For 40 years, Mark Egly—founder of Fair Underwriting—passed every routine physical and life insurance medical exam with flying colors. In March 2017, his comprehensive life insurance exam was so impressive that he qualified for super preferred rates—the highest health classification available, reserved for individuals in exceptional health.

Within months, he was near death. Not a single standard test had flagged Alpha-1 Antitrypsin Deficiency. Not one doctor suspected it. Had Mark not discovered it himself through self-diagnosis, this silent genetic condition would have been fatal. His "perfect" test results masked a life-threatening reality.

View the 2017 Medical Records