MEDICAL CODING INSTITUTE IN CALICUT

 

E88.01
 (Alpha-1-Antitrypsin Defficiency)

                                    An Alpha-1 carrier is a person who has one normal alpha-1 gene (M) and one defective alpha-1 gene (usually Z or S). Being a carrier is very common. It is believed that over 19 million people in the United States are carriers. Most Alpha-1 carriers are MZ or MS. When someone with alpha 1 antitrypsin has a baby with someone who is not a carrier, any child they have will be a carrier, but will not be affected. If your partner is a carrier of α1AT deficiency your children will have a 50 per cent chance of being a carrier and a 50 per cent chance of having α1AT deficiency. Alpha-1 antitrypsin deficiency is a genetic condition, meaning it is transmitted through an abnormal gene from parent to child. This gene is an autosomal recessive gene, which means that if the mom and the dad both carry the gene, 1 out of 4 of their children will inherit alpha-1 antitrypsin deficiency.


Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.

People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 25 and 50. The earliest symptoms 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, and fatigue. Affected individuals often develop emphysema, which is a lung disease caused by damage to the small air sacs in the lungs (alveoli). Characteristic features of emphysema include difficulty breathing, a hacking cough, and a barrel-shaped chest. Smoking or exposure to tobacco smoke accelerates the appearance of emphysema symptoms and damage to the lungs.

Mutations (changes) in the gene that produces the AAT protein cause Alpha-1. In people with the most common abnormal type of Alpha-1 (called ZZ type), AAT proteins are misshapen. These proteins can’t pass from the liver into the bloodstream, so the number of AAT proteins in the blood is low and the amount of AAT in the liver cells is increased.

When people have low AAT levels in the bloodstream, there isn’t enough AAT protein to protect the lungs and other organs from the effects of infection or irritants. Low levels of AAT can cause conditions such as emphysema and bronchitis (inflammation of the linings of the lungs). Your risk of developing lung problems with Alpha-1 increases a lot if you smoke.

Additionally, when AAT is unable to move out of the liver, it can build up and cause damage and scarring to the liver cells. This damage can lead to disorders such as cirrhosis and liver cancer





TREATMENTS OF ALPHA-1-ANTITRYPSIN DEFFICIENCY

  • Augmentation therapy: Doctors increase your AAT levels with donated AAT. If you have emphysemadue to Alpha-1, augmentation therapy may be considered and you may be recommended to receive weekly or monthly infusions (injections into a vein). This treatment may continue for the rest of your life.
  • Lung transplant: A new, healthy lung from a lung transplant can relieve respiratory problems.
  • Medication: Steroids and other drugs called bronchodilators can help make it easier for you to breathe by opening airways in the lungs.
  • Oxygen therapy: Receiving extra oxygen through a mask or tube in the nostrils can help you breathe more comfortably.
  • Pulmonary rehabilitation: Exercises and behavioral changes can relieve breathing problems to improve your daily functioning. Such therapy allows you to do more with the lung function that you have.





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