What Genetic Disorder Linked to Emphysema?

… Continued …

  1. Again, emphysema linked to alpha 1-antitrypsin (AAT) deficiency tends to develop at younger ages.
  2. The patient doesn’t have known risk factors of emphysema, such as smoking or getting long-exposure to other airborne irritants.
  3. The imaging tests show less density in the lung (basilar hyperlucency), though not always.
  4. The patient has a family history of emphysema.

In people without emphysema or COPD, the doctor can still suspect they have AAT deficiency if they:

  1. Develop liver disease and the cause of the problem is not able to be identified.
  2. Have a family history of liver disease.
  3. Or have a family history of necrotizing panniculitis (inflammation of the fat under the skin).

AAT deficiency test is available to check the level of AA in the blood. It is not routinely done in people with emphysema since most cases of the disease is not linked to AAT deficiency.

But according to ARS (the American Thoracic Society) and ERS (the European Respiratory Society), the AAT deficiency test is recommended for people who have:

  1. Experience COPD symptoms (especially such as shortness of breath) or have been diagnosed with COPD.
  2. No symptoms, but the lung tests reveal obstruction.
  3. Airflow blockage asthma that doesn’t respond to bronchodilators (treatment that open the lung airways).
  4. A family member (such as sister or brother) with AAT deficiency.
  5. Liver disease with unknown cause.
  6. Necrotizing panniculitis.

Treatment for emphysema linked to AAT deficiency

Avoiding tobacco smoke and other airborne irritants are important for people with COPD. And this is much more important if you also have AAT deficiency. The effect of the deficiency can get much worse if you’re a smoker!

Emphysema is incurable condition, and the damaged alveoli can be permanent. But some effective treatments are available to control the disease and prevent it from worsening. The treatments may include:

  1. Pulmonary rehabilitation, a physical therapy to help cope with the disease.
  2. The use of some medicines, if necessary, such as; bronchodilators inhalers, corticosteroids, and sometimes antibiotics to treat respiratory infections.
  3. Oxygen therapy. People with emphysema are more vulnerable to have lack of oxygen in the blood due to the damaged alveoli (the place where gas exchange in the lungs occurs).
  4. Surgical treatment. For instance, sometimes doctors may think that parts of damaged lung are surgically removed to help relieve the symptoms – and preserve the remaining, healthier lung. If other treatments fail to work, lung transplant may be suggested.

Replacement therapy can be suggested if the disease is linked to AAT deficiency. It can help restore the balance of AAT levels in the blood by using infusions of natural AAT obtained from someone else (donor).

Article sources:

  1. http://www.health.harvard.edu/diseases-and-conditions/emphysema
  2. http://www.webmd.com/lung/copd/tc/copd-and-alpha-1-antitrypsin-aat-deficiency-topic-overview