The age at which someone is diagnosed with Alpha-1 Antitrypsin Deficiency—or even discovers they carry risk alleles—is absolutely imperative. It can be the difference between a lifetime of health and decades of preventable suffering. It can determine whether organ damage occurs or is avoided entirely. For many, it is literally the difference between life and premature death.
Here's the devastating reality that too many people discover too late:
Degradation of tissues and organs may be occurring in early childhood, adolescence, or young adulthood—long before any symptoms appear.
Previously, a person with Alpha-1 Antitrypsin Deficiency had to wait for the manifestation of obvious disease—emphysema, cirrhosis, an autoimmune condition, or cancer—before anyone suspected AATD might be involved. By that point, they had often been sick for decades, with their bodies facing gradual, relentless decline.
The tragedy? With proper management of circulating Alpha-1 Antitrypsin levels, this damage has the potential to be 100% avoided.
Birth to Early Childhood (0-5 years)
Childhood to Adolescence (6-18 years)
Young Adulthood (19-35 years)
Middle Age (36-55 years)
Later Life (56+ years)
Every year of delay in diagnosis represents another year of preventable tissue damage.
A person diagnosed at age 50 with severe emphysema has experienced approximately 50 years of protease-mediated tissue destruction. If that same person had been diagnosed at birth and started treatment, their lungs might be completely healthy at age 50.
When AATD is identified before symptoms develop, we can:
Example 1: Infant Diagnosed Through Newborn Screening
Example 2: Adult Diagnosed at Age 45 with Emphysema
The difference? 45 years of preventable suffering.
It is Mark Egly's and the Foundation's dream that Alpha-1 Antitrypsin therapy becomes the equivalent of the safest and healthiest "vaccine-type" treatment that many individuals could receive throughout their entire lifetime.
Just as vaccines prevent infectious diseases before exposure, we envision AAT augmentation therapy as:
A Preventive Shield Against Multiple Diseases
A Safe, Well-Tolerated Therapy
A Cost-Effective Investment in Health
A Paradigm Shift in Medicine
Current Reality: AAT augmentation therapy is expensive and typically reserved for severe lung disease because of cost and limited supply from human plasma.
Future Possibility: Alternative production methods under development could make AAT:
The Foundation's Research Priorities include funding development of:
Our Ultimate Goal: Every newborn tested for AATD genotype before leaving the hospital.
Why This Matters:
Current Status: Only a few countries/regions have universal newborn screening for AATD. Most diagnoses still occur in adulthood after significant damage.
What We're Advocating: Expansion of newborn screening programs worldwide, making AATD testing as routine as testing for PKU, hypothyroidism, and other treatable genetic conditions.
Until universal newborn screening is reality, these groups should be tested immediately:
For Undiagnosed Adults:
If you're in your 20s, 30s, or 40s and have any symptoms or family history suggesting AATD, every year matters. Each year without diagnosis is another year of tissue damage. Each year without treatment is another year of declining health that could have been preserved.
If you're over 50, diagnosis is still valuable:
But prevention is always better than treatment of established disease.
When one person is diagnosed with AATD, it opens the door to protecting entire families:
Index Case Diagnosis → Family Testing → Early Detection in Relatives → Preventive Treatment → Disease Prevention
Mark Egly's diagnosis didn't just explain his own health problems—it revealed why so many family members died young. While his diagnosis came too late to save those who had already passed, it created the opportunity to protect future generations.
Every AATD diagnosis should trigger cascade family screening.
For young adults diagnosed with AATD or identified as carriers:
Request AATD testing from your physician if you have:
The Test is Simple:
Don't Accept "You're Too Young" as an Answer:
Ensure Your Family is Tested:
Start Treatment Discussions:
Join Support and Advocacy:
Advocate for Your Children:
Push for Newborn Screening:
Cost of Lifelong Preventive AAT Therapy: Estimated $50,000-$100,000 per year with current plasma-derived AAT (potentially much less with alternative production methods)
Cost of Treating Advanced AATD-Related Diseases:
The Math is Clear: Preventing disease through early diagnosis and treatment saves money, even with current high costs. With cheaper alternative AAT production, prevention becomes overwhelmingly cost-effective.
Beyond individual health outcomes:
Point-of-Care Testing: Development of rapid AAT testing that could be done in any clinic or physician's office
Home Testing Kits: Potentially enabling individuals to check their AAT levels at home
Electronic Health Record Integration: Clinical decision support alerting physicians when AATD testing is indicated
Risk Assessment Apps: Digital tools helping individuals assess their AATD risk and decide whether testing is warranted
Alternative AAT Production: Research funded by the Mark Egly Foundation and others into:
Novel Delivery Methods:
Telemedicine: Enabling access to AATD specialists regardless of geographic location
We urge physicians across all specialties to:
Lower Your Threshold for AATD Testing
Think Preventively
Advocate for Your Patients
Remember the Hippocratic Oath
Mark Egly spent 30 years with symptoms before being diagnosed at age 52. For three decades, he was coughing constantly, short of breath, gradually declining. Doctors told him it was asthma, allergies, bronchitis—everything except the truth.
By the time of diagnosis:
Within months of starting AAT augmentation therapy:
But here's the tragedy: If Mark had been diagnosed at age 20, 30, or even 40, his lungs might have remained completely healthy. The emphysema he has today could have been prevented entirely.
And the greater tragedy: Multiple members of Mark's family died young—from cancers, liver disease, respiratory failure—all potentially related to undiagnosed AATD. Had they been diagnosed early, some might still be alive today.
This is why age at diagnosis matters so profoundly.
The Mark Egly Foundation is working toward a future where:
We have:
What we need is the will to make it happen.
If you have symptoms or risk factors, request AATD testing now. Every year matters.
Don't wait for severe disease. Don't accept "you're too young" as an answer. Don't let another year of preventable damage occur.
Make early AATD testing part of your practice.
You have the power to change patients' life trajectories. Use it.
Support universal newborn screening for AATD.
The evidence is clear. The technology exists. The cost-benefit is favorable. Let's protect the next generation.
Help us develop accessible diagnostic and treatment options.
Your work can make early diagnosis and prevention feasible for millions.
Age is not just a number when it comes to AATD diagnosis. It is the difference between prevention and treatment, between health and disease, between a full life and a truncated one.
The younger we identify AATD, the more lives we save. It's that simple.
Contact the Mark Egly Foundation to learn more about AATD testing, family screening, and connecting with knowledgeable physicians who understand the critical importance of early diagnosis.
Your age at diagnosis could determine the course of your entire life. Make sure that diagnosis happens as early as possible.