Alpha-1 antitrypsin deficiency is a fairly uncommon condition that shares very similar symptoms to other lung diseases such as COPD and asthma.
These symptoms may include a reduction in exercise tolerance, shortness of breath, recurrent lung infections, fatigue, tachycardia when standing, eyesight problems and weight loss.
In fact, because these symptoms are very similar to other lung diseases such as COPD and asthma, Alpha-1 often goes misdiagnosed. In addition, many respiratory therapy students report they only briefly reviewed Alpha-1 antitrypsin deficiency in school.
So, what are some important things you need to know about Alpha-1? Here they are:
1. Alpha-1 antitrypsin is a protein that protects the lungs
Alpha-1 antitrypsin is a type of protein that is formed in the liver. Normally, this protein circulates throughout the bloodstream and helps defend the body’s organs, including the alveoli of the lung, from the adverse effects of an enzyme called neutrophil elastase. Therefore, patients with Alpha-1 deficiency have an increased risk of developing lung disease.
2. Alpha-1 lung disease is sometimes referred to as genetic COPD
Alpha-1 deficiency is an inherited condition that affects 1 out of 1500-3000 people of European descent and is not common in people of Asian ancestry. Children who have Alpha-1 deficiency inherit two faulty Alpha-1 genes, one from each parent. These genes tell cells in the body how to make Alpha-1 proteins. Some people who have severe AAT deficiency develop emphysema later in life.
3. Patients with Alpha-1 deficiency are especially sensitive to smoke.
Smoking or exposure to tobacco smoke increases the risk of developing lung-related symptoms and lung damage much earlier than non-smokers in patients with Alpha-1 deficiency. In fact, smoking is the leading risk factor for developing life-threatening lung disease in patients with Alpha-1 deficiency. For patients with severe Alpha-1 deficiency, smoking can shorten their life by as much as 20 years.
Therefore, as a respiratory therapist, it is important to educate the patient regarding the increased risks of smoking for patients with Alpha-1.
4. Signs and symptoms of COPD can show up in patients with Alpha-1 deficiency as early as 20-30 years of age
Signs and symptoms of lung disease occur a full 10 years earlier on average than in smokers without alpha-1 antitrypsin deficiency. The first lung-related symptoms usually include shortness of breath, less ability to be physically active, and wheezing.
5. Lung and liver problems often occur first.
Alpha-1 antitrypsin (AAT) deficiency is usually diagnosed after the patient develops a lung or a liver disease that’s related to the condition.
Alpha-1 deficiency may be suspected in patients with signs or symptoms of a serious lung condition like emphysema, without any obvious cause. Patients who develop emphysema at 45 years of age or younger are also considered suspicious for Alpha-1 deficiency.
6. There is no cure for Alpha-1 antitrypsin deficiency.
Alpha-1 antitrypsin (AAT) deficiency has no cure, but its related lung diseases have many treatments. Most of these treatments are the same as the ones used for patients with COPD.
7. Alpha-1 deficiency affects many other organ systems besides just the lungs
Alpha-1-antitrypsin doesn’t just affect the lungs. Some people with Alpha-1 antitrypsin deficiency develop cirrhosis and other serious liver diseases. Cirrhosis is a disease that leads to scarring of the liver.
A rare skin disease called necrotizing panniculitis also develops in some people who have AAT deficiency. This condition causes painful lumps under or on the surface of the skin.
Here’s an image listing all of the organ systems affected by Alpha-1 antitrypsin deficiency.