What is Alpha-1 Antitrypsin Deficiency?

I have just been diagnosed with Alpha-1 Antitrypsin Deficiency . Good news is, it isn't fatal. Additional good news is, it explains most of my Chronic Fatigue and Fibromyalgia symptoms that I have been having for ten plus years. Bad news is, your doctor may not even think of testing you for Alpha-1 Antitrypsin Deficiency. It is not very common. I happened to come across it by accident one day searching my symptoms. A simple CFIDS and Fibro diagnosis never seemed to fit. I knew there must be more at work. Exactly what is Alpha-1 Antitrypsin Deficiency and how is it treated?

It really isn't as complicated as the name sounds. Alpha-1 Antitrypsin is basically a lack of a protein that the blood makes. When there is infection or an inflammation, the body automatically makes Alpha-1 Antitrypsin. In a person with Alpha-1 Antitrypsin Deficiency, something in the body , liver , bone marrow or blood itself, goes haywire and doesn't make enough Alpha-1 Antitrypsin. The proteins main job is to protect the body tissues and organs from

damaging enzymes that are released in response to an infection or inflammation. It occurs when the sufferer has a defective gene that make the Alpha-1 Antitrypsin form a defective protein. The liver can't assimilate it, and some of the Alpha-1-Antitrypsin proteins get bogged down in the liver. The end result is that there is a lessened amount of the protein in the blood. The next question it how is it diagnosed? (http://www.mesothelioma-asbestosis.info/Lung-Diseases/alpha-1-antitrypsin-deficiency) (www.alpa1.org)

Usually a simple blood test is all that is required. IF the blood test is not conclusive, sometimes additional tests are needed. The illness often attacks the lungs so doctors may order chest X-rays, scans, and pulmonary tests. People with this condition often have trouble breathing and are already on inhalers for asthma or bronchitis. What are the symptoms of this illness?(www.alpha1.org) (www.alphaone.org)

Many of the symptoms of this illness mimicked those of autoimmune diseases. Doctors often misdiagnose the patient with Chronic Fatigue or some other type of autoimmune disease. Most patients are diagnosed in their 20's or 30's, and the deficiencies is even seen in infants. In infants it usually shows up as liver problems. Most patients with Alpha-1 Antitrypsin Deficiency present with symptoms such as asthma, allergies, skin disorders, difficulty breathing, COPD, poor lung function tests, liver problems jaundice,weight loss, tachycardia, headaches,fatigue and repeated lung infections. No wonder I haven't felt well for ten years. How is the illness treated once it is diagnosed? ?(www.alpha1.org) (www.alphaone.org)

People suffering from Alpha-1 Antitrypsin Deficiency involved first treating the current problems such as breathing problems and liver difficulties. Many patients are placed on inhalers if they already aren't on inhalers. The next step is to encourage patients who smoke to quit. Some patients might be alarmed to find out that they will have to undergo weekly IV treatments to replace the defective protein. Now, doctors are working on putting the normal Alpha-1 Antitrypsin gene back into the body. The hope is that, over time, the new gene will take and the patient will no longer need to receive weekly IV therapy. ?(www.alpha1.org) (www.alphaone.org)

It is advised that patients who are married, or planning to have children, be tested for the gene. You can be an active carrier or a dormant carrier. The good news it, the illness is treatable. Hopefully, patients will discover it before there is permanent damage. In my case, we hope we have found it early enough, as I have COPD. Only time will tell.