Who Is At Risk for Alpha-1 Antitrypsin Deficiency?

White people of Western and Northern European descent are more likely than other ethnic groups to have alpha-1 antitrypsin (AAT) deficiency from inheriting two PiZ genes.

 

Many other gene alterations can cause AAT deficiency, but PiZ is the most common.

 

Major Risk Factors for Alpha-1 Antitrypsin Deficiency

AAT deficiency is an inherited condition. If you have bloodline relatives with known AAT deficiency, you're more likely than others to have the condition. Even so, it doesn't mean that you’ll develop one of the diseases related to the condition.

 

Some risk factors make it more likely that you’ll develop lung disease if you have AAT deficiency. Smoking is the leading risk factor for serious lung disease if you have AAT deficiency. Your risk also may go up if you're exposed to dust, fumes, or other toxic substances.

 

What Are the Signs and Symptoms of Alpha-1 Antitrypsin Deficiency?

You may have alpha-1 antitrypsin deficiency if you have signs and symptoms of a serious lung condition, especially emphysema, without any obvious cause.

 

Another sign of AAT deficiency is if you develop emphysema when you’re 45 years old or younger.

 

Signs and symptoms of emphysema include shortness of breath and wheezing, decreased ability to do physical activity, and cough.

 

At first, many people who have AAT deficiency are diagnosed with asthma. This is because wheezing also is a symptom of asthma. Also, people who have AAT deficiency respond well to asthma medicines.

 

How Is Alpha-1 Antitrypsin Deficiency Diagnosed?

Alpha-1 antitrypsin deficiency usually is diagnosed after you develop a lung or liver disease that's related to the condition.

 

Because of this, a number of doctors may be involved in the diagnosis of AAT deficiency. These include primary care doctors, pulmonologists, and hepatologists.

 

To check whether the disease you have may be related to AAT deficiency, your doctor will:

 

Diagnostic Tests

Your doctor may recommend tests to confirm a diagnosis of AAT deficiency. He or she also may recommend tests to check for lung- or liver-related conditions.

 

A genetic test is the most certain way to check for AAT deficiency. This test will show whether you have altered AAT genes.

 

A blood test also may be used. This test checks the levels of AAT protein in your blood. If the levels are a lot lower than normal, it's likely that you have AAT deficiency.

 

Lung-Related Tests

If you have a lung disease related to AAT deficiency, your doctor may recommend lung function tests and high-resolution computed tomography, or CT, scanning.

 

Lung function tests measure the size of your lungs, how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. These tests may show how severe your lung disease is and how well treatment is working.

 

High-resolution CT scanning uses x rays to create detailed pictures of parts of the body. A CT scan can show whether you have emphysema or another lung condition and how severe it is.

 

 

"Strength does not come from physical capacity. It comes from an indomitable will."

 

Availability of Healthier Alternatives

In preparing its recommendations, the Team was mandated to provide:

 

• An overview of the health implications of identified trans fat alternatives through an assessment of the health benefits and risks of each alternative and an evaluation of the ability of alternatives to meet quality and consumer acceptance needs for various product applications.

 

 

The Task Force selected four criteria to help identify healthier substitutes for partially hydrogenated vegetable oils : health, availability, functionality and cost. Health and availability were "screen" criteria that had to be met by all of the alternatives being considered.