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Lungs

lungs

In people with Alpha-1, the Alpha-1 protein is mutated and gets stuck in the liver which can cause liver problems. But because the protein is stuck in the liver, it cannot get to the lungs to protect them, which can cause lung problems.

Lung disease symptoms typically occur in adults. These symptoms include shortness of breath, coughing, bronchiectasis, and frequent chest colds. Bronchiectasis is an illness that causes the tubes leading to the lungs to be permanently widened and leads to infections.

People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease 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 rapid heartbeat upon standing. Affected individuals often develop emphysema, which is a lung disease caused by damage to the small air sacs in the lungs (alveoli). Characteristic features of emphysema include difficulty breathing, a hacking cough, and a barrel-shaped chest. Smoking or exposure to tobacco smoke accelerates the appearance of emphysema symptoms and damage to the lungs.

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