What is alpha 1antitripsin deficiency?

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Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children.

The first signs and symptoms of lung disease caused by alpha-1 antitrypsin deficiency usually appear between the ages of 20 and 40 years. The earliest signs 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, rapid heartbeat upon standing, and vision abnormalities. Advanced lung disease leads to emphysema, in which the small air sacs (alveoli) in the lungs are damaged. Characteristics features of emphysema include difficulty breathing, a hacking cough, and a barrel-shaped chest. Smoking or exposure to tobacco smoke accelerates the appearance of symptoms and damage to the lungs.

About 10 percent of infants and 15 percent of adults with alpha-1 antitrypsin deficiency have liver damage. Signs of liver disease can include a swollen abdomen, coughing up blood, swollen feet or legs, and yellowing of the skin and whites of the eyes (jaundice).

In rare cases, alpha-1 antitrypsin deficiency also causes a skin condition known as panniculitis, which is characterized by hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.

it is genetic disease where person affected lack this enzyme which prevent protease ;another enzyme destroys protein.in this disease person will have lung problem and recurrent infectionand s/he will develop emphysema.

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What is alpha 1antitripsin deficiency?

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