What is the Standard of Care?

Historically, the medical community has approached Alpha-1 Antitrypsin Deficiency (AATD) with a narrow focus:

Current Standard Focuses On:

• Primary diagnosis only after significant lung or liver symptoms appear
• Treatment typically limited to patients with severe deficiency (ZZ genotype)
• Focus primarily on pulmonary (lung) and hepatic (liver) manifestations
• Augmentation therapy reserved for patients meeting strict FEV1 (lung function) criteria
• Average time to diagnosis: 8 years, requiring consultations with 4+ healthcare providers

What's Missing:

• Early identification before irreversible damage occurs
• Recognition of AATD's systemic impact beyond lungs and liver
• Understanding of AAT's role in 152+ autoimmune conditions
• Proactive treatment to prevent disease progression
• Broader therapeutic applications of Alpha-1 Antitrypsin

Under current standards of care:

• Patients often aren't diagnosed until significant, irreversible organ damage has occurred
• Many individuals with AATD remain undiagnosed their entire lives
• The broader implications of AAT deficiency on overall health are overlooked
• Treatment opportunities are missed during critical early stages
• Family members at risk are not systematically screened

Based on groundbreaking research and clinical evidence, we advocate for a fundamental shift in how the medical community approaches AATD:

Current Practice: Testing only symptomatic patients or those with family history

Needed Change: Routine screening for at-risk populations, including:

• Non-smokers with respiratory symptoms or COPD
• Patients with unexplained liver disease
• Individuals with autoimmune conditions
• Young adults with emphysema
• Family members of diagnosed individuals
• Anyone with chronic, unexplained inflammatory conditions

Why It Matters: Early identification allows for intervention before permanent damage occurs, potentially preventing decades of suffering and extending both lifespan and quality of life.

Current Practice: Augmentation therapy primarily for those with severe deficiency and significant lung impairment (typically FEV1 ≤ 65%)

Needed Change: Treatment consideration for:

• Patients with moderate deficiency who show early signs of disease
• Individuals with AATD and autoimmune conditions
• Those with elevated inflammatory markers
• Patients showing early emphysema or panlobular changes on imaging
• Preventive treatment to halt disease progression before significant decline

Why It Matters: Waiting for severe decline means missing the window when treatment is most effective. Prevention is always more successful than attempting to reverse damage.

Current Practice: Viewing AATD primarily as a lung and liver disease

Needed Change: Understanding AATD as a systemic condition affecting:

• Autoimmune Function: 152+ autoimmune diseases linked to AAT deficiency
• Inflammatory Response: Uncontrolled neutrophil elastase causing tissue damage throughout the body
• Cancer Risk: Increased susceptibility due to chronic inflammation and reduced protective mechanisms
• Cardiovascular Health: Vascular inflammation and associated complications
• Wound Healing: Impaired recovery and prolonged inflammation
• Neurological Conditions: Potential connections to Alzheimer's, ALS, and MS
• Pain Management: Chronic pain from prolonged inflammatory response

Why It Matters: Treating AATD holistically can address multiple health conditions simultaneously, dramatically improving patient outcomes and quality of life.

Current Practice: Waiting for symptoms to become severe before intervention

Needed Change: Implementing preventive strategies including:

• Baseline testing and regular monitoring for at-risk individuals
• Early intervention at first signs of deficiency
• Lifestyle modifications and environmental protections
• Regular imaging to detect early tissue changes
• Family cascade testing to identify relatives at risk

Why It Matters: By the time severe symptoms appear, significant irreversible damage has already occurred. Proactive care can prevent this trajectory entirely.

Research and clinical experience—including Mark Egly's remarkable recovery—demonstrate that:

• Early treatment prevents disease progression: Patients treated before severe decline maintain stable lung function
• Systemic benefits extend beyond lungs: Improvements in pain, inflammation, weight, and overall health
• Quality of life dramatically improves: Patients transition from disabled to active, productive lives
• Mortality risk decreases: Early intervention extends lifespan and reduces disease-related deaths

Mark's research and patent filing ("Method of Preventing and/or Treating a Plurality of Diseases") provide scientific evidence for:

• The role of neutrophil elastase in 152 autoimmune diseases
• AAT's protective function against tissue destruction
• Therapeutic applications beyond traditional AATD treatment
• Mechanisms explaining previously unexplained medical phenomena (e.g., the secondhand smoke paradox)

1. Increase Awareness

• Educate yourself about AATD's systemic impacts
• Consider AATD in differential diagnoses, especially for unexplained conditions
• Review Mark's patent and research findings

1. Lower Testing Threshold

• Order Alpha-1 Antitrypsin testing more liberally
• Include AATD screening in workups for chronic respiratory, liver, and autoimmune conditions
• Implement family cascade testing for diagnosed patients

1. Re-evaluate Treatment Criteria

• Consider earlier intervention for patients with documented deficiency
• Look beyond strict FEV1 criteria to overall patient health and disease trajectory
• Evaluate patients holistically, considering systemic manifestations

1. Collaborate and Share Knowledge

• Join the "Uniting Doctors" initiative
• Share cases and outcomes with peers
• Contribute to the growing body of evidence supporting expanded care

The Mark Egly Foundation is actively working with:

• Medical professionals across specialties
• Research institutions
• Professional medical organizations
• Patient advocacy groups
• Healthcare policymakers

Our Goal: Establish updated standards of care that reflect the true systemic nature of AATD and enable earlier, more comprehensive treatment—saving lives and preventing unnecessary suffering.

The standard of care for Alpha-1 Antitrypsin Deficiency has not kept pace with scientific understanding. While current standards have helped some patients, they leave too many undiagnosed, undertreated, or suffering from preventable disease progression.

It's time for medicine to evolve.

By expanding screening, lowering treatment thresholds, recognizing systemic impacts, and embracing proactive care, we can transform outcomes for millions of people worldwide.

The Mark Egly Foundation believes that good medicine requires continuous evolution. When evidence shows better approaches exist, the standard of care must change to reflect that knowledge. Lives depend on it.