Alpha-1 Related Emphysema

Alpha-1 Related Emphysema

Article
Digestive Health
Healthy Lungs
+1
Contributed byMaulik P. Purohit MD MPHMar 17, 2018

The topic Alpha-1 Related Emphysema you are seeking is a synonym, or alternative name, or is closely related to the medical condition Alpha-1 Antitrypsin Deficiency.

Quick Summary:

  • Alpha-1 Antitrypsin Deficiency (AATD) is a genetic disorder inherited in an autosomal recessive manner, in which there is deficiency of the protein alpha-1 antitrypsin (AAT) in blood
  • In the body, AAT functions to protect the lungs. However, when it is not present in adequate amounts, the lungs can be damaged resulting in breathing difficulties
  • Normally, alpha-1 antitrypsin is produced in the liver and subsequently released into the bloodstream. Due to certain mutations, the SERPINA1 gene is unable to provide instructions for making the AAT protein
  • Environmental factors, including exposure to tobacco smoke, chemicals, and dust can also contribute to lung damage in individuals with Alpha-1 Antitrypsin Deficiency, so individuals with only one cope of defective gene are also at risk of developing the disease if they are exposed to these toxins
  • The signs and symptoms associated with Alpha-1 Antitrypsin Deficiency are shortness of breath, wheezing, asthma, fatigue, jaundice, and unintentional weight loss. The complications of AATD may include liver cirrhosis and emphysema
  • The blood levels of alpha-1 antitrypsin enzyme may be evaluated to diagnose this deficiency disorder. The treatment includes intravenous replacement of alpha-1 antitrypsin enzyme
  • With certain lifestyle modifications and appropriate treatment of symptoms, most individuals with Alpha-1 Antitrypsin Deficiency can  live normal lives

Please find comprehensive information on Alpha-1 Antitrypsin Deficiency regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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