Alpha-1 antitrypsin deficiency or A1AD is a genetic disorder that affects the body’s production of the protein alpha-1 antitrypsin, which is vital in protecting against the enzyme neutrophil elastase. The white blood cells create the enzyme to fight infection — it is harmless to already-healthy tissue unless levels of alpha-1 antitrypsin are low. Lung and liver tissue are particularly prone to damage by neutrophil elastase, which is why the primary dangers of A1AD are lung and liver disease.
Complications of Alpha-1 Antitrypsin Deficiency: Lung Disease
Individuals with A1AD usually display symptoms of lung disease, including shortness of breath even without physical exertion, wheezing, fatigue, unexplained weight loss, and frequent respiratory infections. The deficiency also raises the risk of developing emphysema, the symptoms of which include difficulty breathing, a sharp or hacking cough, and a barrel-shaped chest.
Complication: Liver Disease
Though a less likely outcome of A1AD, liver disease affects around ten percent of infants and 15 percent of adults with A1AD. In infants, this most commonly takes the form of jaundice, a condition caused by a build-up of the harmful toxin bilirubin. In adults, liver disease usually presents as scarring or cirrhosis of the liver, which can cause a swollen abdomen, feet, or legs, and jaundice.
Complication: Liver Cancer
Individuals with A1AD are at increased risk of developing liver cancer, particularly hepatocellular carcinoma, because the condition occurs primarily in individuals with chronic liver disease and cirrhosis, which those with A1AD are more likely to have. Symptoms of hepatocellular carcinoma include abdominal pain or tenderness, enlarged abdomen, unexplained weight loss, increased tendency toward bruising or bleeding, and, again, jaundice.
Complication: Skin Disease
In rare cases, individuals with alpha-1 antitrypsin deficiency develop a skin disease called panniculitis. This inflammation of the fatty layer of tissue under the skin, known as subcutaneous adipose tissue, can lead to symptoms such as painful, hardened patches or bumps on the skin, (particularly the legs and feet), fatigue, unexplained weight loss, joint and muscle pain, and nausea.
Augmentation Therapy for Lung Disease
Alpha-1 antitrypsin augmentation therapy is one of the newest treatments for lung diseases resulting from A1AD. During this treatment, the patient receives an intravenous infusion of alpha-1 antitrypsin. With an extra dose of the missing protein, it is possible to arrest the progress of lung disease and prevent further damage. Augmentation therapy is generally administered only once symptoms of lung disease have begun to appear. This is a new treatment, still in the process of being developed and refined, and experts do not recommend it for individuals with liver disease.
Other Treatments for Lung Disease
Medical practitioners may also treat A1AD-caused lung disease with more traditional treatments for the condition. One common and effective method is forcing dilation of the bronchi in the lungs, allowing increased airflow. These bronchodilators are commonly used by individuals with asthma and can help alleviate many of the respiratory problems associated with lung disease. Another common treatment is the use of inhaled steroids to reduce inflammation. Antibiotics can treat infections. In severe cases, individuals may require lung transplantation.
Treatment of Lung Cancer
Lung cancers like hepatocellular carcinoma require other forms of treatment, including surgery to remove cancer tissue, chemotherapy, radiation therapy, and targeted therapy, in which drugs are used to inhibit the growth of cancer cells
Prevention of Lung Disease
Though the A1AD deficiency is not preventable, the complications can be. One of the most effective ways to avoid lung disease is to prevent it from occurring in the first place. This is not always possible for individuals with alpha-1 antitrypsin deficiency, given the diagnosis is often made after symptoms begin. However, even in that case, preventative measures can keep the condition from worsening. Individuals who smoke should begin taking steps to quit; smoking exacerbates the possibility and severity of lung diseases like emphysema. Vaccinations for conditions like influenza, pneumococcus, and hepatitis can also help.
Treatment of Liver Disease
The treatment of liver disease generally focuses on underlying causes and the alleviation of symptoms. Certain medications can help prevent diseases like cirrhosis from progressing or address the build-up of toxins as a result of poor liver function. Antibiotics address infections. Doctors can drain fluid to alleviate the pressure from a build-up. If other treatment methods fail, a liver transplant may be the only remaining option.
Preventing Liver Disease
Liver diseases like cirrhosis can be prevented by improving certain lifestyle factors that contribute to them. This is especially vital for those with an alpha-1 antitrypsin deficiency, since the disorder puts them at increased risk. By far the largest contributing factor to liver disease is alcohol consumption. One of the best things individuals with A1AD can do to prevent the onset or exacerbation of liver disease is to quit or decrease drinking alcohol. Another key preventative measure is the management of weight and blood sugar levels.