The disease known as ALPHA1-ANTITRYPSIN DEFICIENCY (A1AT deficiency) affects around one in every 2500 people in Australia – so it’s not rare, and yet it often goes undiagnosed because it’s somewhat complicated!

Basically A1AT deficiency is a deficiency of a protein that protects the body against enzymes which digest the body’s tissues. This protective protein (AIAT) is made in the liver and is carried around the body on white blood cells. The A1AT protein is essential to stop damage occurring in the lungs and liver from enzymes. Deficiency of this protein results in lung disease and liver disease, although there are more than 70 variants of this genetic abnormality and some people only have a slight risk of lung or liver damage. If severe forms of A1AT deficiency exist the disease will present as emphysema of the lungs and/or cirrhosis of the liver. The severe form of A1AT deficiency disease is more common in Caucasians, Scandinavians and Europeans. It is much less common in Asians and African Americans.

The disease of A1AT deficiency is inherited and can be tested for by measuring the level of the protective protein in the blood – the normal level of A1AT is between 150 to 350 mg/dL.

When should this disease be suspected?

In young adults with respiratory symptoms often misdiagnosed as “difficult asthma”

Prolonged jaundice in new born babies

Severe emphysema in adults – presents with shortness of breath

Liver disease in children and adults that is unexplained – this may present as jaundice (yellowing of the skin and eyes), swelling of the abdomen and poor appetite, and abnormal liver function tests will be found.

Early diagnosis and treatment is vital and as long as the doctor remembers to check for a deficiency of the protein A1AT in the blood, the diagnosis is not difficult.

These patients need a lot of antioxidants to slow the progression of the disease and to increase their energy levels for the increased physical effort required to breath. Supplements of vitamin C, vitamin E, selenium, zinc, and fish oil should be taken continually. Physiotherapy and breathing exercises for the lungs are important. This disease is greatly exacerbated by smoking and if the sufferes of A1AT deficiency disease continue to smoke their life span will be much less.

Supporting the liver with raw juices and a good liver tonic is also important.

My book titled "Heal Your Gut an A to Z Guide" covers all Liver Diseases.