Symptoms of Alpha1 Antitrypsin Deficiency

The Mark Egly Foundation, in its pursuit of improved awareness and care for AATD aware and unaware patients, needs to make a bold statement. The first possible symptoms are jaundice at birth (high bilirubin count) and associated liver problems after birth! Our pursuit of changing the standard of care is to test every baby at birth. Why? Because there are many situations where NO SYMPTOMS may develop for decades, but the lack of enough circulating Alpha1 Antitrypsin may be responsible for hundreds of items going quietly wrong for decades within the body!

For those that are fortunate to have classic symptoms, here is a list of traditional symptoms:

1. Allergies that rarely go away
2. Easy bruising
3. Constant tiredness
4. Frequent shortness of breath
5. Frequent colds, bronchitis, and lung conditions
6. Jaundice and yellowing in the eyes, skin, and mouth
7. Liver disease and swelling
8. Swelling the belly
9. Weight loss for no reason

Our Foundation is promoting the updating of the standard of care using other symptoms and conditions recognized in the Mark Egly Patent, and why our drive is there to change the standard of care in the medical profession! Here is a list of just a few additional symptoms, with many more to follow!

1. Asthma!
2. Sniffling without runny nose (sucking for oxygen)
3. Constant cough in non-smokers and smokers
4. Headaches
5. Pain
6. Constant earaches in babies and infants
7. Stomach issues, including IBS and Crohn's disease
8. COPD and emphysema patients
9. Cancer
10. 152 Autoimmune diseases such as Raynaud's Syndrome, MS, ALS, ALZ, dementia, and more are listed in Mark's Patent