Allergies: Identifying Alpha-1 Antitrypsin Deficiency

Written by Nathan Pipkin

Wrapping one’s head around Alpha-1 antitrypsin deficiency is quite a challenge. While its rate varies widely depending on the subject population, Alpha-1 antitrypsin deficiency affects roughly 1 in every 2,000 people of European ancestry.

What Is Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency is a condition that increases the risk of lung and liver disease. The condition causes a lack of the Alpha-1 antitrypsin, a protein by the liver that the body needs to protect the lungs. When formed in the wrong shape, the protein cannot travel to the lungs, marking the deficiency’s beginning and an increase in lung or liver disease.

What Causes Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency is a complex condition caused by complex factors. Instead of simple lifestyle habits that can impair your liver and lung functioning, the condition is inherited. However, it’s possible to receive the genes in question without experiencing the symptoms of Alpha-1 antitrypsin deficiency or by experiencing a mild version of the deficiency.

Symptoms of Alpha-1 Antitrypsin Deficiency

The symptoms of Alpha-1 antitrypsin deficiency range from mild to severe, which is why it’s necessary to take the time to learn what to look out for. On the less severe end of the spectrum, symptoms of Alpha-1 antitrypsin deficiency include tiredness and weight loss. However, the other symptoms are more intense, such as shortness of breath, impaired vision, rapid heartbeat and repeated lung functions.

How Is Alpha-1 Antitrypsin Deficiency Diagnosed?

Fortunately, if you or a loved one are experiencing these symptoms and suspect you might have received alpha-1 antitrypsin deficiency from your family’s genetics, a simple test can put your mind at ease. Doctors can use either blood tests or genetic tests to determine your status. The minimal time and effort required to take one of these tests will be more than worth finding out whether you have this condition. If you or someone you know suspects that they have Alpha-1 antitrypsin deficiency, encourage them to find out and discuss it with their doctor as soon as possible.

Alpha-1 Antitrypsin Deficiency Treatment Medications

Although Alpha-1 antitrypsin deficiency can lead to serious health risks, you can do some things to address it. Professionals in the medical community have developed multiple options for treating the deficiency and managing the symptoms. The most prominent, called augmentation therapy, also goes by the name of ‘replacement therapy.’ In this form of treatment, your supply of alpha-1 antitrypsin is supplemented by donations from healthy donors.

This treatment is conducted on a weekly basis, and it protects your lungs from continued damage. Unfortunately, it is impossible to reverse lung damage that has already been sustained, but this weekly treatment is the best option to preserve healthy lung functions. One advantage of augmentation therapy is that it provides options that increase the patient’s independence. The treatment can be conducted either at home with the help of a technician or in a doctor’s office.

Another treatment option intended to relieve respiratory problems is a lung transplant. Of course, this route is intensive in terms of expense and recovery time but should not be ruled out if damage to the lungs has progressed far enough. Recent research has indicated that over 80% of lung recipients survive a full year after the transplant, with between 55% and 70% surviving up to three years. Oxygen therapy is also a treatment commonly used to treat patients with Alpha-1 antitrypsin deficiency, designed to help patients breathe more comfortably.

The final treatment option is pulmonary rehabilitation. Created for people with chronic lung disease, pulmonary rehabilitation is also beneficial for those with Alpha-1 antitrypsin deficiency. The goal of pulmonary rehabilitation is to improve the patient’s quality of life. This is accomplished by reducing shortness of breath, increasing exercise tolerance, decreasing the number of hospitalizations that become necessary and promoting a sense of well-being in the patient. This form of physical therapy is typically conducted in an outpatient setting, either in the patient’s home with a technician or in an office or clinic.

Alpha-1 Antitrypsin Deficiency and Chronic Liver Disease

An essential part of becoming educated about Alpha-1 antitrypsin deficiency is becoming aware of the condition’s potential contribution to other health problems. One example is liver disease, which occurs for around 15% of adults with the deficiency. This happens because the alpha-1 antitrypsin proteins produced by the liver will become stuck in the liver, and the liver’s inability to break them down to manageable shapes leads to damage and scarring.

Alpha-1 Antitrypsin Deficiency and Pulmonary Emphysema

Unfortunately, emphysema is the most common cause of death for individuals diagnosed with alpha-1 antitrypsin deficiency. Typically caused by lifestyle habits such as smoking, emphysema is experienced by many alpha-1 antitrypsin deficient patients who have not smoked. The symptoms of pulmonary emphysema include rapid breathing, wheezing, coughing and shortness of breath exacerbated by activity. If you or someone you know is experiencing these symptoms and suspect it may be severe, advise them to see a doctor as soon as possible.

A Parting Reminder

Whether it’s you, a family member or a friend, people who suspect that they might have inherited alpha-1 antitrypsin deficiency from their family should take the possibility seriously. The dedicated research of medical professionals through the decades has developed easy ways to get tested for this condition and manageable ways to treat the symptoms.