Mark Egly Foundation

Symptoms of Alpha-1 Antitrypsin Deficiency

Recognizing the Signs: From Birth to Adulthood

Alpha-1 Antitrypsin Deficiency (AATD) presents a complex diagnostic challenge because symptoms can appear at any stage of life—or remain hidden for decades. The Mark Egly Foundation is committed to transforming awareness and improving early detection, starting with universal newborn screening.

Why Early Detection Matters

The First Signs: Newborns
The earliest possible indicator of Alpha-1 is jaundice at birth, characterized by elevated bilirubin levels and potential liver complications. This is why we advocate passionately for testing every baby at birth. Early identification can prevent years of misdiagnosis and enable proactive monitoring and treatment.

The Silent Years
Many individuals with Alpha-1 experience no obvious symptoms for decades. However, the deficiency of circulating Alpha-1 Antitrypsin protein may be silently contributing to hundreds of subtle health issues throughout the body during this time. This makes universal screening even more critical—waiting for symptoms means valuable years of potential intervention are lost.

Traditional Symptoms

When classic symptoms do appear, they often include:

  • Respiratory Issues
    • Frequent shortness of breath
    • Recurring colds, bronchitis, and lung infections
    • Chronic cough in both smokers and non-smokers
    • COPD and emphysema (often developing earlier than typical)
  • Liver-Related Symptoms
    • Jaundice (yellowing of eyes, skin, and mouth)
    • Liver disease and swelling
    • Abdominal swelling and distension
    • Easy bruising
  • General Health Indicators
    • Persistent fatigue and low energy
    • Unexplained weight loss
    • Allergies that persist year-round
    • Frequent headaches

Expanding the Symptom Profile

Beyond Traditional Recognition

The Mark Egly Foundation is pioneering a broader understanding of Alpha-1 symptoms based on groundbreaking research documented in the Mark Egly Patent. We're working to update medical standards of care to recognize a wider range of conditions that may be linked to Alpha-1 deficiency.

Additional Symptoms Under Investigation

Respiratory & ENT

  • Asthma
  • Persistent sniffling without nasal discharge (compensatory breathing patterns)
  • Chronic earaches in infants and young children

Gastrointestinal

  • Irritable Bowel Syndrome (IBS)
  • Crohn's disease
  • Other chronic digestive issues

Systemic Conditions

  • Chronic pain syndromes
  • Various forms of cancer
  • 152+ autoimmune diseases including:
    • Raynaud's Syndrome
    • Multiple Sclerosis (MS)
    • Amyotrophic Lateral Sclerosis (ALS)
    • Alzheimer's disease and other forms of dementia
    • And many more detailed in Mark's Patent

Our Mission: Changing the Standard of Care

The traditional approach to Alpha-1 diagnosis waits for obvious respiratory or liver symptoms to emerge. The Mark Egly Foundation believes this is too late. We're advocating for:

  1. Universal newborn screening for Alpha-1 deficiency
  2. Broader symptom recognition in medical training and practice
  3. Earlier intervention to prevent disease progression
  4. Comprehensive research into the full spectrum of Alpha-1 effects

When to Get Tested

Consider Alpha-1 testing if you or a family member experiences:

  • Unexplained respiratory issues, especially at a young age
  • Liver disease without clear cause
  • Family history of COPD, emphysema, or liver disease
  • Multiple chronic conditions that seem unrelated
  • Any combination of symptoms listed above

Take Action

If you recognize these symptoms in yourself or a loved one, talk to your healthcare provider about Alpha-1 testing. A simple blood test can provide life-changing answers.

The Mark Egly Foundation is here to support you through testing, diagnosis, and beyond.

In Mark's honor, we're working to ensure no one suffers years of unexplained illness when a simple test could provide answers.