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Alpha-1 Antitrypsin Deficiency     Bookmark and Share
 
 

The person who suffers from Alpha-1 antitrypsin deficiency has low level of protein in the body. The liver is responsible behind this malady. The presence of low level of protein restricts the proper functioning of the liver. Alpha-1 antitrypsin is responsible for the proper functioning of the lungs. This along with another enzyme destroys the aging cells that can harm the healthy tissues of the lungs. When a person suffers from A1AD the healthy tissues of the lungs are destroyed. This results in the mal-functioning of the lungs and also leads to cirrhosis of liver. Sometimes people do not suffer from any liver problems.

Causes of Alpha-1 Antitrypsin Deficiency

Genetic disorder is the common cause behind this disease. The problem is quite common in UK as 1 out of every 25 person suffers from Alpha-1 antitrypsin deficiency. Most of the patients are born with the full syndrome. The faulty gene is inherited from both the parents and is referred as autosomal recessive inheritance. All people who are the carriers of faulty genes may not suffer from the problem as their body may be producing A1A in small quantity but it still might be effective for the normal functioning.

Symptoms of Alpha-1 Antitrypsin Deficiency

The symptoms of the Alpha-1 antitrypsin deficiency might be present right from the birth but they become more prominent after a person crosses 50 years. It damages the alveoli which is responsible for transferring the oxygen into the blood. The alveoli gets inflated when we breathe. It expands and contracts in normal condition. But when a person is suffering from Alpha-1 antitrypsin deficiency this normal expansion and contraction does not take place. The alveoli loose its elasticity and holes develop in it. It is generally associated with cough and breathlessness. A person becomes breathless only after doing little exertion. A person generally associate this symptoms with asthma and it is only after proper tests the lack of A1A enzyme is diagnosed.

The A1AD is also associated with lung infections. Hence a person suffering from this disease should get vaccinated against all type of flu infections. These people are also very prone to cold and cough and so they must take proper care of themselves. The best way to avoid any type of lung infection is to avoid direct and indirect smoking. Due to the inflammation in the lungs the liver cells becomes badly damaged. This damage causes cirrhosis and results in the poor functioning of the liver. The affected person starts to lose weight as well as blood. All this leads to the mal-functioning of the liver.

Treatment for Alpha-1 Antitrypsin Deficiency

Alcohol and medicines that harm the liver should be avoided so that unnecessary damage of the liver is restricted. Fresh fruit and vegetables should be included in the diet. No specific treatment or cure can be suggested for Alpha-1 antitrypsin deficiency. Doctors give replacement of A1A through injections. These injections really benefit the patients. The replacement of enzyme is still not practiced in UK though there are other countries where the practice is prevalent. Medicines to improve the functioning of the lungs are administered regularly. Sometimes transplantation of the liver is also suggested in order to treat a person suffering from this malady. However, more than often, this is the ultimate step.

Intravenous injections of alpha-1 antitrypsin are administered to the affected patients. This medication prevents the further damage of the lungs. But studies reveal that long time effectiveness of the medication is not possible. The therapy is not suggested for patients suffering from liver problems.
 
 
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