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Alpha-1 Antitrypsin Deficiency


Alpha-1 antitrypsin (AAT) deficiency is a hereditary disorder where the liver has a malfunctioning and does not produce enough protein to protect the liver and lungs from damage. This malfunctioning can lead to liver disease and emphysema. AAT if a protein tissue that usually safe guards the lungs from toxins and waste liquids that enter the lungs, deficiency of this can harm the lungs. Smoking only adds to the risk of lung damage.

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Signs & Symptoms

The main symptom is shortness of breath with little exercise and this may be wrongly diagnosed as asthma, hence a person after the age of 50 with this symptom, should get themselves tested for AAT deficiency. If a person is found deficient of AAT they should get themselves vaccinated of all kinds of flu infections coz this disorder affects the lungs first. Other symptoms attached are wheezing and unintentional weight loss.

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Protien Restoration Modern Medicine

The main aim of the treatment is restoring the AAT protein. The protein is given through the intra venous every week. However the benefits of this therapy cannot be fully known.

Smoking is very harmful for an AAT deficient person. Hence quitting smoking is the first and most crucible step.

Unnecessary damage of the liver should be restricted by avoiding alcohol and medicines that might harm the liver. Dietary changes and inclusion of fruits and vegetables are recommended. Medicines to improve or aid the functioning of liver are a necessity. Sometimes liver transplant is also recommended as it might help the AAT deficient person.

A person who is AAT deficient is at a high risk of Cirrhosis or liver failure and liver cancer.

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