Antitrypsin Deficiency – Do You Have One?

November 12, 2012

Antitrypsin Deficiency - Do You Have One?

People who have an antitrypsin deficiency usually lack the protein needed to protect their liver and lungs from damage. This could therefore lead to problems like liver disease or emphysema.

What are the Causes?

Antitrypsin is a kind of protein known as a protease inhibitor, which is made inside the liver to protect the liver and the lungs. Having an antitrypsin deficiency therefore means that this protein is lacking inside the person’s body. This usually happens because of a genetic defect and is mostly common among people with European blood. However, it is also more common today than it was before. Adults under forty who have an extreme deficiency of antitrypsin might end up with a liver disease or with emphysema, a condition that could become worse if the person happens to be a smoker, as well. However, it has to be noted that some people who have deficiency never develop a lung or liver disease, though cirrhosis and emphysema could both be fatal.

What are the Symptoms?

- Trouble breathing with exertion or without exertion

- Extreme liver disease symptoms

– Wheezing

- Unintentional weight loss

What are the Potential Complications?

- Emphysema – Bronchiectasis

- Liver failure or cirrhosis

- Liver cancer

How Can It be Diagnosed?

Regular physical exams might reveal wheezing, reduced breathing noises or a barrel-shaped chest, for starters, but these tests might help diagnose antitrypsin deficiency, as well:

- Arterial blood gases

- Antitrypsin blood test

- Chest x-ray

- Chest CT scan

- Lung function test

- Genetic test

Your doctor might also suspect this deficiency if you get:

Emphysema before turning 45 years old

Emphysema, even though you were hardly ever exposed to smoke and have never even smoked yourself

Emphysema, as well as a family history connected to this condition

Hepatitis or liver disease without any other known causes for it

Hepatitis or liver disease, as well as a family history connected to this condition

How Can It Be Treated?

Antitrypsin deficiency treatment usually involves putting back the missing proteins in the body. This can usually be done through the veins on a weekly basis. However, nobody knows for sure who would be abel to benefit from this kind of therapy. Other cirrhosis and emphysema treatments can be used to treat this deficiency, too. And, naturally, quitting smoking would be vital, as well.

If you think you might have an antitrypsin deficiency or if you are starting to develop the symptoms related to this deficiency, make sure you get in touch with a healthcare provider and schedule an appointment for the necessary tests as soon as possible.


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