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Overview

Overview

Complications

Complications of AATD can affect the lungs, liver, skin or blood vessels.

Lungs

People who have AATD can damage their lungs by repeated exposure to smoke, fumes, air pollution or dust. People with AATD who smoke typically develop lung disease between ages 40 and 50 — about 10 years sooner than people who don't smoke. Lung disease can start in someone who has AATD in their 30s. Smoking increases the risk of lung disease, and smoking causes more-severe lung disease than in someone who doesn't smoke.

Causes of airway obstruction

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AATD raises the risk of a group of lung diseases known as chronic obstructive lung disease (COPD). COPD is an ongoing lung condition caused by damage to the lungs. Swelling and irritation can block airflow and create extra mucus, which makes breathing hard.

The two most common types of COPD are:

• Emphysema. Emphysema damages the walls of the air sacs in the lungs called alveoli. In healthy lungs, the sacs stretch and fill with air when you breathe in. The sacs help air leave the lungs when you breathe out. But damage from emphysema causes the walls to break down. Air gets trapped in the large alveoli. This makes it hard for new oxygen-rich air to get in.
• Cigarette smoking speeds up the development of the disease and lung damage. About 9 in 10 people who have severe AATD and smoke develop emphysema. But people with AATD who don't smoke also can get emphysema.
• Chronic bronchitis. Bronchitis is the inflammation of the tubes that carry oxygen to and from the lungs. The tubes are called bronchial tubes. The ongoing swelling causes extra mucus. People who smoke may have symptoms as early as age 35. About 4 in 10 people who have AATD have ongoing bronchitis.

In people who have AATD, COPD usually develops before age 55. Lung disease is most common in people older than 30. Lung diseases are more common in adults than in children.

Liver

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SERPINA1 gene changes can change the shape of the AAT protein. When the liver can't move the AAT protein into the bloodstream, the protein builds up and has nowhere to go. Over time, this buildup can cause damage. Liver disease can start at any age, including at birth.

AATD raises the risk of liver diseases:

• Fibrosis. Scar tissue builds on the liver over areas of swelling or injury. Men older than 50 who have AATD, diabetes and obesity are at high risk of fibrosis. Scarring that gets worse over time can lead to cirrhosis.
• Cirrhosis. Scar tissue that builds on the liver affects how well the liver works. Advanced scarring of the liver is called cirrhosis. It can lead to liver failure and liver cancer. Cirrhosis is known as end-stage liver disease.
• Liver cancer. AATD increases the risk of liver cancer. Hepatocellular cancer is the most common liver cancer in people with AATD. It occurs most often in people who have cirrhosis.

Infants can get liver disease. AATD is the main cause of liver disease in children. Adults can get liver disease if they didn't have it during childhood.

Skin

People with AATD have an increased risk of a skin condition called panniculitis. Swelling of tissue under the skin can cause painful lumps. Lumps often appear in the lower belly and legs.

Painful patches or lumps also can appear on the skin. They most often form on the thighs and buttocks. The lumps may break open and leak an oily liquid.

The average age panniculitis occurs is about age 40. Panniculitis is rare.

Blood vessels

AATD raises the risk of a group of blood vessel conditions called vasculitis. Blood vessels become damaged because of swelling called inflammation. Either arteries or veins can be affected. Swelling on the walls of blood vessels narrows or blocks blood flow. Vasculitis also can cause blood clots, which could cause a heart attack or stroke.

Some blood vessel damage can cause death. Vasculitis is rare.

Symptoms

Causes

Risk Factors

Complications