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Alpha 1-antitrypsin deficiency

Alpha 1-antitrypsin deficiency Definition

Alpha 1-antitrypsin deficiency, also known simply as Alpha-1 or A1AD, is a genetic disorder caused by the defective production of “alpha 1-antitrypsin”. When this happens, the blood and lungs receives insufficient amounts of A1AT while the liver cells receive excess amounts of A1AT proteins. Serious cases of Alpha-1 cause emphysema in most patients with this condition. Children and adults may experience liver diseases. Treatments of this disease include intravenous A1AT protein infusions, liver or lung transplants and avoidance of dangerous inhalants. People of Iberian, Saudi Arabian and northern European ancestry are more at risk of having A1AD.

Alpha 1-antitrypsin deficiency Symptoms and Signs

Symptoms of A1AD include wheezing, rales, rhonchi and shortness of breath. These symptoms may resemble asthma that does not react to treatments. Patients with Alpha-1 may develop emphysema around their 30s and 40s even without a smoking history. This condition also causes impaired liver function, which could lead to liver failure or cirrhosis.

Alpha 1-antitrypsin deficiency Treatment

Lung-affected Alpha-1 patients in the U.S. and Canada receive intravenous A1AT infusions from donated human plasma. Augmentation therapy may slow down the disease and prevent future damages to the lungs. However, this kind of therapy is only recommended to Alpha-1 patients with emphysema symptoms. It is not appropriate for patients with liver-related complications. Treatments for Aplha-1 related liver problems focus only on relieving the symptoms. However, severe cases of A1AD may need liver transplants. Current experimental treatments include recombinant and A1AT inhaled forms. Other therapies being studied are focused on the prevention of polymer formation in the liver.

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