Alpha-1 antitrypsin deficiency is typically diagnosed when you have a liver or lung problem that is linked to it. However, recognizing the symptoms and receiving an early diagnosis is critical for preventing severe disability, particularly when it comes to therapy and lifestyle modifications.
To confirm the diagnosis, you may need to visit multiple experts, or your doctor may request numerous diagnostic tests such as blood tests.
Although there is presently no cure for alpha-1 antitrypsin deficiency, there are therapies available to reduce lung impairment and manage associated consequences. A team of doctors, including a general care physician, a pulmonologist, a gastroenterologist, and a geneticist, is the best way to address treatment. Also, people with AAT deficiency who acquire liver or skin problems will be sent to specialists who specialize in such conditions.
You might require augmentation therapy, which is a long-term treatment for alpha-1 antitrypsin deficiency. This therapy involves receiving the AAT protein, which is acquired from blood donors, via a vein in order to increase the level of protein in the lungs. This slows the degeneration of the lungs. Moderate fever, headaches, vomiting, and dizziness are all possible side effects of this therapy.
Also, if you have this problems, you may additionally need the following:
- Oxygen therapy
- Lung transplant
- Pulmonary rehabilitation
- COPD and asthma medications