Alpha-1 antitrypsinedeficiëntie
- Article
- 2021-01-31
AAT is a protein. If you don't make enough AAT, your lungs are more likely to be damaged by cigarette smoking or environmental fumes and dust. This can lead to serious lung conditions, such as chronic obstructive pulmonary disease or COPD. AAT deficiency can also cause a liver condition called cirrhosis. This is more common in children with AAT deficiency. This topic focuses on AAT deficiency leading to lung disease.
AAT deficiency runs in families. Many people are unaware they have it, but early diagnosis can help prevent serious lung disease. Contact your doctor if you have a family member with AAT deficiency or who has been diagnosed with COPD aged 40 or 50. Also talk to your doctor if you have symptoms such as chronic (persistent) cough, shortness of breath, wheezing, or liver disease.
Currently, AAT deficiency has no cure, but a treatment called augmentation therapy can help slow lung damage. You may also need oxygen therapy, pulmonary rehabilitation, or medications to treat complications. Your doctor can also talk to you about changes to your healthy lifestyle, such as giving up smoking and avoiding secondhand smoke and other fumes.
To learn more about alpha-1 antitrypsin deficiency, our role in research and clinical trials to improve health, and where to find more information, check out this health topic. Symptoms
The first lung-related symptoms of AAT deficiency may include shortness of breath, being less physically active, and wheezing. Some people may not have any symptoms or complications. AAT deficiency can lead to lung and liver disease.
Symptoms of AAT deficiency include:
- Chronic (persistent) cough
- Feeling tired (fatigue)
- Repeat lung infections
- Shortness of breath or difficulty breathing
- Wheezing
These symptoms usually occur in people between the ages of 20 and 50. In the beginning, many people with AAT deficiency are diagnosed with asthma. This is because wheezing is also a symptom of asthma. People with AAT deficiency also respond well to asthma medications.
Some people with AAT deficiency can have liver damage. Signs of liver damage include jaundice and swelling in your legs. In rare cases, AAT deficiency can cause skin problems such as painful lumps or patches.
Therapy
AAT deficiency is currently incurable, but there are treatments to slow down lung damage and treat its complications. Treatment is best managed by a team consisting of a primary care physician, pulmonologist (pulmonologist), gastroenterologist (GI specialist), and geneticist (specialist in genetic disorders). People with AAT deficiency and developing related liver or skin conditions are referred to doctors who treat those diseases.
You may need a lifelong treatment called augmentation therapy. In this treatment, you receive the AAT protein, obtained from blood donors, through a vein to increase the level of protein in your lungs. This helps slow lung damage. Side effects of this treatment are rare and may include a mild fever, headache, nausea, and dizziness.
If you have complications from AAT deficiency, you may also need the following:
- Medicines called inhaled bronchodilators and inhaled steroids. These drugs help open your airways and make breathing easier. They are also used to treat asthma and COPD.
- Oxygen therapy
- Pulmonary rehabilitation, where treatment is carried out by a team of experts in a special clinic. You will learn how to manage your fitness and functioning at your best.
- A lung transplant, this may be an option if you have very severe breathing problems and have a good chance of surviving the transplant operation
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