What are the signs and symptoms of Alpha-1?

Symptoms may first appear during infancy, childhood, or adulthood. About 20% of affected people have symptoms during infancy. Affected infants develop yellowing of the skin and the whites of the eyes (jaundice) and an enlarged liver during the first week of life. Jaundice disappears at about age 2 to 4 months. However, about 20% of these infants later develop cirrhosis, and some die before reaching adulthood.

Even if they did not have liver problems during infancy, about 10% of adults develop cirrhosis, which may eventually lead to liver cancer.

Adults commonly develop emphysema, with progressively increasing shortness of breath, difficulty breathing, coughing, wheezing and decreased ability to exercise. Emphysema rarely develops before age 25. It develops earlier and is more severe in smokers than in nonsmokers.

The severity of symptoms also varies depending on the form of the deficiency, other disorders people have, environmental exposure to lung irritants, and other factors. If people have never smoked, their symptoms tend to be moderate, and most have a normal life expectancy.

People with panniculitis have painful, tender bumps or discolored patches on the lower abdomen, buttocks, and thighs. The bumps may feel hard to the touch. Panniculitis varies in severity and can occur at any age.