Changing the Standard of Care
Transforming Medical Practice Through Breakthrough Alpha-1 Antitrypsin Research
By Mark Egly Foundation
The Urgent Need for Change
For too long, medicine has treated Alpha-1 Antitrypsin Deficiency (AATD) as a rare condition affecting only the liver and lungs. This narrow view has left millions of people undiagnosed, untreated, and suffering from preventable diseases. The Mark Egly Foundation exists to fundamentally transform how the medical community understands, diagnoses, and treats AATD—and in doing so, revolutionize preventive medicine itself.
Through the integration of Uniting Doctors into The Mark Egly Foundation, we are creating a global network of physicians, researchers, and medical educators committed to bringing groundbreaking discoveries to clinical practice. We regularly share new research findings, clinical evidence, and treatment protocols that dramatically expand the standard of care across virtually every medical specialty.
Our Mission: From Reactive to Proactive Medicine
The current standard of care waits for disease to manifest before intervening. We are changing this paradigm by:
- Identifying patients at risk before irreversible damage occurs
- Expanding diagnostic criteria beyond traditional liver and lung markers
- Recognizing AATD as a systemic condition affecting multiple organ systems
- Implementing preventive treatment protocols based on Mark Egly's 2020 patent discoveries
- Reclassifying numerous conditions as AATD-related autoimmune diseases
The Scale of Unrecognized Disease
Mark Egly's research has uncovered connections between Alpha-1 Antitrypsin deficiency and 152 autoimmune diseases, multiple forms of cancer, and numerous neurological, cardiovascular, and inflammatory conditions. Yet current medical practice:
- Screens for AATD only when severe liver or lung disease is already present
- Fails to recognize the systemic, multi-organ nature of AAT deficiency
- Treats symptoms of individual diseases without addressing the underlying protease imbalance
- Overlooks family screening that could identify at-risk relatives before symptoms develop
- Restricts AAT augmentation therapy to narrow indications despite evidence of broader benefits
The result? Millions of people worldwide suffer from preventable diseases, undergo unnecessary treatments, experience early disability, and die prematurely—all because the medical community doesn't recognize the role of Alpha-1 Antitrypsin in their conditions.
The Evidence Demands Action
- 97 peer-reviewed studies connect Alpha-1 Antitrypsin to Alzheimer's disease
- 289 active clinical trials are investigating AAT's therapeutic potential across multiple conditions
- Recent 2024-2025 research demonstrates AAT's protective effects in neuroinflammation, cancer metastasis, and autoimmune disease progression
- Mark Egly's 2020 patent filing outlines methods for preventing and treating a plurality of diseases through AAT-based interventions
- Clinical case studies from our Uniting Doctors network show remarkable patient outcomes when AATD is addressed proactively
The evidence is overwhelming. The question is no longer whether standards should change, but how quickly we can implement these life-saving changes.
1. Universal Screening for High-Risk Populations
Current Standard: Test for AATD only when unexplained liver disease or emphysema is present, typically after significant organ damage has occurred.
New Standard We're Advocating:
- Routine AATD screening for all individuals with autoimmune conditions (rheumatoid arthritis, lupus, inflammatory bowel disease, psoriasis, multiple sclerosis, etc.)
- Genetic testing for family members of anyone diagnosed with AATD
- AAT level testing as part of standard inflammatory marker panels
- Screening for individuals with unexplained chronic inflammation, recurrent infections, or early-onset chronic diseases
- Newborn screening programs in high-prevalence populations
Why This Matters: Early identification allows for preventive intervention before irreversible organ damage, potentially preventing dozens of downstream diseases.
2. Expanded Treatment Indications
Current Standard:AAT augmentation therapy is approved only for severe lung disease (emphysema with specific lung function criteria) and, in some cases, severe liver disease.
New Standard We're Advocating:
- Preventive AAT augmentation for diagnosed individuals before organ damage occurs
- Treatment for AATD-related autoimmune conditions, even without lung or liver involvement
- AAT therapy for cancer patients with AATD to prevent metastasis and support immune function
- Neurological applications for Alzheimer's, ALS, Parkinson's, and multiple sclerosis patients with AATD
- Consideration of AAT therapy for inflammatory conditions that don't respond to conventional treatment
Why This Matters:Waiting for severe organ damage contradicts the fundamental principle of preventive medicine. Early intervention can prevent disease progression and improve quality of life.
3. Systemic Recognition Across All Specialties
Current Standard:AATD is considered a pulmonology and hepatology concern, rarely discussed in other medical specialties.
New Standard We're Advocating:
- Integration of AATD awareness into rheumatology, neurology, oncology, cardiology, gastroenterology, dermatology, nephrology, and all other specialties
- Clinical decision support tools that prompt AATD testing when relevant symptoms are present
- Multidisciplinary care teams for AATD patients addressing all affected organ systems
- Specialty-specific protocols for managing AATD in different patient populations
Why This Matters:AATD is not a single-organ disease. It affects multiple systems simultaneously, requiring coordinated care across specialties.
4. Reclassification of Autoimmune and Inflammatory Diseases
Current Standard:Diseases like Alzheimer's, many cancers, and various autoimmune conditions are viewed as distinct entities with separate, unrelated causes.
New Standard We're Advocating:
- Recognition that many autoimmune diseases share a common mechanism: protease imbalance caused by AAT deficiency
- Reclassification of certain neurological conditions (Alzheimer's, ALS, MS, Parkinsons) as having autoimmune/inflammatory components linked to AATD
- Understanding that AAT deficiency contributes to cancer development and metastasis through impaired immune surveillance and chronic inflammation
- Acknowledgment that addressing underlying AAT deficiency may prevent or modify disease progression in multiple conditions simultaneously
Why This Matters:Treating individual diseases without addressing the underlying protease imbalance is like bailing water from a sinking ship without plugging the hole. We must address root causes, not just symptoms.
Alpha-1 and Alzheimer's Disease/Dementia
The Revolutionary Discovery:Mark Egly's research demonstrates that in AATD patients, the brain is under attack from within the body due to uncontrolled proteases—not merely self-destructing as previously believed. This fundamentally changes our understanding of neurodegeneration.
Current Standard of Care:
- Alzheimer's is treated as a standalone neurodegenerative disease
- Focus on amyloid plaques and tau tangles as primary causes
- Limited treatment options, mostly addressing symptoms rather than prevention
- No consideration of systemic inflammation or protease imbalance
Our Mission to Change the Standard:
- Reclassify Alzheimer's and related dementias as having significant autoimmune/inflammatory components, particularly in AATD patients
- Implement AATD screening for all Alzheimer's patients and their families
- Explore preventive AAT augmentation for at-risk individuals before cognitive decline begins
- Recognize demyelination as a consequence of protease-mediated damage, potentially preventable through protease inhibition
- Develop new treatment protocols combining conventional Alzheimer's therapies with AAT augmentation for AATD patients
The Evidence:
- 97 published studies connecting AAT to Alzheimer's disease
- Recent December 2024 research demonstrating COPD-Alzheimer's connections through inflammatory pathways
- Clinical observations of cognitive improvements in some AATD patients receiving AAT augmentation therapy
- Neuroinflammation research highlighting AAT's neuroprotective properties
The Impact:If we can prevent even a fraction of Alzheimer's cases through early AATD identification and treatment, we could save millions from cognitive decline and spare families from devastating losses.
Alpha-1 and Cancer Prevention/Treatment
The Revolutionary Discovery:Mark Egly's patent filing outlines how AAT deficiency creates an environment conducive to cancer development and metastasis through multiple mechanisms: chronic inflammation, impaired immune surveillance, and dysregulated tissue repair.
Current Standard of Care:
- Cancer is treated as specific organ-based diseases (lung cancer, breast cancer, etc.)
- No routine consideration of AAT levels or AATD status
- Treatment focuses on tumor destruction rather than addressing underlying conditions that allowed cancer to develop
Our Mission to Change the Standard:
- Screen all cancer patients for AATD to identify those who might benefit from AAT augmentation
- Implement preventive strategies for AATD patients in cancer-prone families
- Investigate AAT therapy as adjunct cancer treatment to prevent metastasis and support immune function
- Recognize cancer as preventable in many AATD patients through early intervention
- Study AAT's anti-inflammatory effects in reducing cancer risk in high-risk populations
Why This Matters:Multiple members of Mark Egly's family died young from various cancers—breast, lung, prostate, ovarian, stomach. Had their AATD been identified and treated early, some of these deaths might have been prevented.
Alpha-1 and Autoimmune Diseases
The Revolutionary Discovery:The 152 autoimmune diseases identified in Mark Egly's research share a common mechanism—uncontrolled protease activity due to insufficient Alpha-1 Antitrypsin.
Current Standard of Care:
- Each autoimmune disease is treated separately with immunosuppressive drugs
- No consideration of underlying protease imbalance
- Treatment of symptoms rather than addressing root cause
Our Mission to Change the Standard:
- Screen all autoimmune patients for AATD (rheumatoid arthritis, lupus, IBD, psoriasis, MS, etc.)
- Consider AAT augmentation for autoimmune patients with documented AATD
- Recognize shared mechanisms across autoimmune conditions linked to protease imbalance
- Develop combination therapies addressing both specific autoimmune pathways and underlying AAT deficiency
- Implement preventive screening for family members of autoimmune patients
The Evidence:Clinical observations show that some autoimmune patients with AATD experience symptom improvement when AAT levels are normalized through augmentation therapy.
Alpha-1 and Cardiovascular Disease
The Revolutionary Discovery:AAT deficiency contributes to vascular inflammation, atherosclerosis, and thrombotic events through protease-mediated endothelial damage.
Current Standard of Care:
- Cardiovascular disease is treated with statins, blood pressure medications, and anticoagulants
- No routine AATD screening in cardiovascular patients
Our Mission to Change the Standard:
- Include AATD screening in cardiovascular risk assessments
- Investigate AAT therapy for preventing vascular inflammation and atherosclerosis
- Recognize vascular events as potentially AATD-related in young patients with unexplained disease
- Study AAT's effects on thrombosis risk and vascular healing
Alpha-1 and Respiratory Diseases Beyond COPD
The Revolutionary Discovery:AAT deficiency affects respiratory health through multiple pathways beyond traditional emphysema—including recurrent infections, asthma-like symptoms, bronchiectasis, and inflammatory airway disease.
Current Standard of Care:
- AATD testing occurs only with emphysema diagnosis
- Asthma, bronchiectasis, and chronic bronchitis are treated without AATD consideration
Our Mission to Change the Standard:
- Screen all chronic respiratory patients for AATD, including those with asthma, recurrent pneumonia, chronic bronchitis, and bronchiectasis
- Recognize respiratory symptoms as early AATD indicators deserving evaluation
- Implement preventive treatment before irreversible lung damage occurs
- Expand AAT therapy indications to include respiratory conditions beyond severe emphysema
Returning to Medicine's Foundation
Mark Egly's patent emphasizes disease prevention over cure pursuit — a principle that aligns perfectly with the Hippocratic tradition but has been largely abandoned in modern medicine's focus on treating established disease.
The Modern Hippocratic Oath states clearly:
"I will prevent disease whenever I can, for prevention is preferable to cure."
This fundamental principle guides everything we do at the Mark Egly Foundation. On our unitingdoctors.com website, we prominently feature both the classical and modern Hippocratic oaths because they articulate our core mission: preventing the suffering that comes from late diagnosis and delayed treatment.
Why Prevention Must Be the Priority
The Reality of Incurable Diseases:Many conditions linked to AATD—Alzheimer's, ALS, certain cancers, advanced emphysema—have no cure once established. Yetwe have evidence that addressing AATD early can prevent or delay many of these conditions.
The Question We Must Ask:If we cannot currently cure these diseases, why aren't we making every attempt at prevention? Why do we wait for irreversible damage before intervening?
The Foundation's Position:
- Prevention is not only preferable—it is medically, ethically, and economically superior to late-stage treatment
- Early identification and treatment of AATD can prevent multiple downstream diseases simultaneously
- The cost of prevention is a fraction of the cost of treating advanced disease
- The human cost—suffering, disability, premature death—is incalculable
1. Education and Awareness
Physician Education:Through Uniting Doctors, we provide:
- Continuing Medical Education (CME) programs on AATD across specialties
- Clinical case studies demonstrating successful early intervention
- Diagnostic algorithms integrating AATD screening into routine practice
- Treatment protocols for AATD patients across multiple conditions
Medical School Curriculum:We advocate for:
- Inclusion of comprehensive AATD education in medical school curricula
- Training on systemic thinking and multi-organ disease connections
- Emphasis on preventive medicine principles
Public Awareness:We educate patients about:
- AATD symptoms and risk factors
- The importance of family screening
- How to request AATD testing from healthcare providers
- Available treatment options and clinical trials
2. Research and Evidence Generation
We fund and facilitate research that:
- Documents clinical outcomes of early AATD intervention
- Demonstrates cost-effectiveness of expanded screening
- Explores AAT's therapeutic potential across multiple conditions
- Provides the evidence base needed for guideline changes
3. Policy and Guideline Advocacy
We work with:
- Medical societies to update clinical practice guidelines
- Insurance companies to expand coverage for AATD screening and treatment
- Government health agencies to implement public health screening programs
- Regulatory agencies to approve expanded treatment indications
4. Clinical Network Development
Through our Clinical Resource Centers and Uniting Doctors network:
- Establishing centers of excellence for comprehensive AATD care
- Creating referral pathways for complex cases
- Developing multidisciplinary care teams
- Implementing standardized protocols across institutions
5. Technology and Tools
We develop:
- Clinical decision support systems that prompt AATD consideration
- Risk assessment calculators identifying screening candidates
- Patient registries tracking long-term outcomes
- Telemedicine platforms connecting patients with AATD experts
Key Indicators We Track:
- Diagnostic Rates:Increase in AATD diagnoses, particularly in non-pulmonary/hepatic conditions
- Earlier Diagnosis:Reduction in age at diagnosis and severity of disease at presentation
- Expanded Testing:Growth in AATD testing across multiple specialties
- Family Screening:Increase in relatives tested per index case
- Treatment Access:Expansion of AAT augmentation therapy to broader indications
- Physician Awareness:Percentage of physicians across specialties who can identify AATD symptoms
- Clinical Outcomes:Improved patient outcomes through early intervention
- Guideline Changes:Number of medical societies updating AATD guidelines
- Research Activity:Growth in AATD research across multiple disease areas
- Lives Saved:Reduction in preventable deaths from AATD-related conditions
Our Goals by 2030:
- 100,000 physicians educated through our programs
- AATD screening protocols implemented in 100+ healthcare systems
- Expanded treatment guidelines adopted by major medical societies
- Family screening programs in 15+ countries
- Measurable reduction in late-stage diagnoses
- Clinical evidence supporting prevention-focused approach
- Hundreds of thousands of lives saved through early identification and treatment
For Healthcare Providers
The standard of care is changing. Will you lead the change or follow it?
Join our Uniting Doctors network to:
- Stay informed about the latest AATD research and clinical guidelines
- Access diagnostic and treatment protocols
- Connect with colleagues addressing AATD across specialties
- Contribute your clinical observations to our growing knowledge base
- Receive CME credit for AATD education programs
Join Uniting Doctors →
For Patients and Families
You have the right to early diagnosis and preventive treatment.
If you or your family members have:
- Autoimmune diseases
- Unexplained chronic inflammation
- Early-onset chronic diseases
- Multiple relatives with cancer, dementia, or respiratory disease
- Known AATD in your family
You deserve AATD screening. Contact us to learn how to request testing and connect with knowledgeable physicians.
For Researchers
Help us build the evidence base that will change medical practice.
We facilitate collaborative research on:
- AATD's role in specific diseases and conditions
- Clinical outcomes of early intervention
- Novel therapeutic applications of AAT
- Cost-effectiveness of expanded screening
- Biomarkers predicting disease risk and treatment response
For Healthcare Systems and Payers
Prevention is not only better medicine—it's better economics.
We can help you:
- Implement cost-effective AATD screening programs
- Develop protocols for early intervention
- Demonstrate return on investment for preventive care
- Reduce long-term costs of late-stage disease management
The Urgency of Now
Every day we delay changing standards of care, people are dying from preventable diseases. Families are experiencing losses that could be avoided. Children are developing conditions that could be prevented.
Mark Egly's family paid the ultimate price—lives cut short by diseases that we now understand are connected to AATD. His 45-year search for answers has given us the knowledge to prevent others from suffering the same fate.
But knowledge without action saves no one.
The Mark Egly Foundation is committed to transforming medical practice as quickly as possible. We have the evidence. We have the expertise. We have the network. What we need is the medical community's willingness to embrace change.
Our Commitment to the Medical Community
We recognize that changing standards of care is complex, requiring:
- Solid scientific evidence
- Clinical validation
- Practical implementation strategies
- Addressing concerns about costs, logistics, and resource allocation
We are committed to providing:
- Rigorous research supporting every recommendation
- Practical tools making implementation feasible
- Ongoing education ensuring confident, competent care
- Collaborative partnerships respecting clinical expertise
- Transparent communication about progress, challenges, and learnings
We're not asking physicians to abandon evidence-based practice. We're asking them to embrace new evidence that could save millions of lives.
The Future We're Building
Imagine a world where:
- AATD is diagnosed at birth or in early childhood, long before symptoms appear
- Preventive treatment prevents the development of emphysema, cirrhosis, Alzheimer's, and numerous autoimmune diseases
- Families with AATD are systematically screened and protected
- The medical community recognizes protease balance as fundamental to health
- Cancer rates decline in populations with proactive AATD management
- Alzheimer's incidence decreases as we address neuroinflammation early
- No one dies young from preventable AATD-related diseases
This is not fantasy. This is achievable through systematic implementation of the knowledge we already have.
The Mark Egly Foundation is making this vision reality—one physician, one patient, one policy change at a time.
Stay Updated on Standard of Care Changes
Visit our Changing Standards of Practice section regularly for:
- New research findings and their clinical implications
- Updated diagnostic and treatment protocols
- Case studies demonstrating successful interventions
- Guidelines from medical societies incorporating AATD awareness
- Evidence supporting standard of care changes
- Validation studies confirming our medical discoveries
Take Action Today
Healthcare Providers: Join Uniting Doctors and access clinical resources
Patients: Request AATD testing and connect with informed physicians
Researchers: Collaborate with us on studies that will change practice
Institutions: Implement AATD screening and early intervention programs
Everyone: Share this information with those who need it
The standard of care is changing. The question is not whether, but how quickly.
Join us in making prevention the standard, not the exception.
"I will prevent disease whenever I can, for prevention is preferable to cure." — The Hippocratic Oath
This is not just an oath. It is our mission. It is our promise. It is why we exist.
Contact The Mark Egly Foundation today to learn how you can be part of this transformative movement in medicine.