This deficiency may predispose patients to several illnesses. It most commonly manifests as lung disease or emphysema, less commonly as liver disease, or more rarely, as a skin condition called panniculitis. Panniculitis is characterized by hardened skin with painful lumps or patches and is due to an inflammation in the fatty tissue under the skin. It can occur in both children and adults.
Lung disease is the most frequent cause of disability and early death among adults affected by the disease.
The first signs and symptoms of lung disease caused by alpha-1 antitrypsin deficiency usually manifest between ages 20 and 50. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other signs and symptoms can include: unintentional weight loss, recurring respiratory infections, fatigue and vision abnormalities.
Advanced lung disease leads to emphysema or chronic obstructive lung disease (COPD), in which small air sacs in the lung are damaged. Characteristic features of emphysema include difficulty breathing, and a barrel-shaped chest.
Smoking or exposure to tobacco smoke accelerates the appearance of symptoms and damage to the lungs. AAT deficiency is also a major reason that patients undergo lung transplants.
Liver disease can affect both children and adults. About 10 percent of infants and 15 percent of adults with AAT deficiency develop scarring or cirrhosis of the liver because of progressive liver damage. In newborns, the typical symptoms of AAT deficiency are jaundice, swelling of the abdomen, and poor feeding. Symptoms of AAT deficiency may also appear in late childhood or adulthood and include fatigue, poor appetite, swelling of the abdomen and legs or abnormal liver tests and jaundice. It can cause progressive scarring or cirrhosis of the liver and is the leading genetic cause of liver transplantation in children. Cirrhosis can manifest as easy bruising, fluid retention and vomiting of blood or passage of black stool because of bleeding in the gut. It can also lead to confusion, which can progress to coma.