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ALPHA 1-ANTITRYPSIN DEFICIENCY & TREATMENT

Read about alpha 1-antitrypsin deficiency medical facts: what is the definition of alpha 1-antitrypsin deficiency, what are the signs and symptoms, medical treatment & how to treat alpha 1-antitrypsin deficiency, and related alpha 1-antitrypsin deficiency diseases.

Definition: What is "Alpha 1-antitrypsin deficiency"?

ALPHA 1-ANTITRYPSIN DEFICIENCY

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 & 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 & adults may experience liver diseases. Treatments of this disease include intravenous A1AT protein infusions, liver or lung transplants & avoidance of dangerous inhalants. People of Iberian, Saudi Arabian & northern European ancestry are more at risk of having A1AD.

Symptoms & Signs

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

Treatment: How to Treat "Alpha 1-antitrypsin deficiency"?

Lung-affected Alpha-1 patients in the U.S. & Canada receive intravenous A1AT infusions from donated human plasma. Augmentation therapy may slow down the disease & 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 & A1AT inhaled forms. Other therapies being studied are focused on the prevention of polymer formation in the liver.

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