If you have low levels of AAT but normal liver and lung function tests, you may not need treatment however, you will be monitored with repeat testing over time. You will also likely have a lung function or spirometry test, a chest X-ray or CT scan of your lungs, blood testing of liver function and in some cases an ultrasound of the liver. If your levels are low, genetic testing with another blood test may be used to identify any abnormal genes. Your doctor may order a screening blood test to check the level of alpha-1 antitrypsin in your body. If you have a close family member-such as a parent or sibling-with AAT deficiency you should also be screened. Everyones liver produces a protein called. Global Initiative for Chronic Obstructive Lung Disease (GOLD) Guidelines recommend that all individuals with COPD, regardless of age or ethnicity, should be tested for AAT deficiency. Alpha-1 Antitrypsin Deficiency, also known as Alpha-1, is an uncommon condition that causes lung and liver disease. Smokers with AAT deficiency tend to develop disease 10 or more years earlier than non-smokers. In most individuals with AAT deficiency, the warning signs of lung disease start to appear between the age of 30 or 40 years. If you are a young person with COPD or liver disease, your doctor may decide to give you a simple blood test to check for AAT deficiency. In rare cases, AAT can cause a skin disease called panniculitis, resulting in hardened patches and red, painful lumps. When the liver is affected by AAT deficiency, symptoms may include tiredness, loss of appetite, weight loss, swelling of the feet or belly, yellowish discoloration of the skin (jaundice) or white part of the eyes, vomiting of blood, or blood in stools. Increased quit rates among smokers a diagnosis of AATD has been shown to strongly motivate people to stop smoking Reduction of workplace hazards - exposures. Symptoms may be chronic or occur with acute respiratory tract infections, such as a cold or the flu. Chest pain that increases when breathing in.Decrease in exercise capacity and a persistent low energy state or tiredness Alpha-1 Antitrypsin Deficiency Elevated liver enzyme levels Dark urine and pale stools Itching Enlarged liver Bleeding Feeding problems Poor growth or.Related pages: genetics clinical features diagnosis management elastase. Excessive cough with phlegm/sputum production Severe alpha-1 antitrypsin deficiency is associated with lung and liver disease. A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range.Individuals with AAT deficiency have a wide variety of symptoms which may include: Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition it is passed from parents to their children through their genes. Symptoms can appear early in life, but many will not begin until a person reaches middle-age.
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