Alpha-1, the Genetic Component in COPD

What is Alpha 1?

You might not realize it, but your lungs and liver are connected in a very direct way. The liver manufactures a protein called Alpha-1Antitrypsin, which is then used by the body to repair environmental damage that accumulates in the lungs. Therefore, in people with a normal production and distribution of Alpha-1Antitrypsin throughout the body, when they breathe in an irritant that damages cells in the lungs, the body uses Alpha-1Antitrypsin to repair the damage. 

Symptoms of AAT deficiency include

• Shortness of breath and wheezing
• Repeated lung infections
• Tiredness
• Rapid heartbeat upon standing
• Vision problems
• Weight loss

It’s a Genetic Thing: Alpha 1

Some people have a genetic mutation that prevents the Alpha-1Antitrypsin from exiting the liver where it’s made. Even though their livers are generating Alpha-1Antitrypsin, this protein gets stuck inside the liver and can’t travel to the lungs where it’s needed. This results in a condition called alpha-1 antitrypsin deficiency, and it can be a risk factor for the development of chronic obstructive pulmonary disease. 

These stuck Alpha-1Antitrypsin molecules can cause damage to the liver, leading to liver disease, such as cirrhosis in some patients. Meanwhile, this protein is not arriving in the lungs to repair the damage being incurred there, so for certain patients, this deficiency can result in emphysema and/or COPD.

But not every person who has Alpha-1Antitrypsin develops liver or lung disease people with the deficiency who are also employed in certain occupations, such as firefighters, miners and other workers who may inhale airborne irritants, are also at higher risk for developing COPD in conjunction with Alpha-1Antitrypsin deficiency.

The National Institutes of Health reports that “people with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20 and 50. These symptoms may include wheezing, shortness of breath, reduced tolerance for exercise or exertion, unintended weight loss and fatigue. Sandhaus says a classic sign that Alpha-1Antitrypsin may be present is a20-, 30- or 40-year-old with lungs that look like they belong to a 70-year-old smoker.

The NIH also reports that Alpha-1Antitrypsin affects an estimated 1 in 1,500 to 3,500 people.

How Alpha-1 lung disease develops

Alphas are lacking have a “deficiency” of the protective protein Alpha-1-antitrypsin (AAT), which is made primarily in the liver.

Normal white blood cells in the lung produce an enzyme called neutrophil elastase that destroys invading germs and digests damaged or ageing cells. In most people, the alpha-1 protein neutralizes the enzyme after a short time. In Alphas, there isn’t enough alpha-1 protein in the lungs; the enzyme then keeps on working, attacking and destroying normal lung tissue. As this damage continues over years, lung disease such as COPD can develop.

Alphas who smoke are at much greater risk of COPD than most people. Even Alphas who have never smoked may develop severe lung disease. Alphas often develop COPD while they are in their 30s or 40s. People who do not have Alpha-1, even longtime smokers, usually don’t develop COPD symptoms until they are in their 60s or 70s.

Alphas often develop COPD primarily in the lower part of their lungs, whereas most non-Alphas, especially smokers, show the worst COPD damage in the top part of the lungs.

While both early-onset COPD and lung damage that is worse in the lower lungs are clues to diagnosis, please remember:

Alpha-1 Antitrypsin Deficiency can’t be diagnosed by symptoms or by a medical examination alone; you need to get a blood test to know for sure.

Treatment for Alpha-1 lung disease

There is no cure for Alpha-1 lung disease, but treatments are available.

Alphas with lung diseases such as asthma, COPD or bronchiectasis can be helped by the same drugs that are used by non-Alphas for these conditions.

These include drugs to open up the lung passages (bronchodilators) and reduce the chronic inflammation that is common in the lungs of Alphas (corticosteroids).

Since infections in the lung can bring millions of extra white blood cells into the lungs, many doctors who care for Alphas recommend that lung infections be treated early and aggressively with antibiotics. One sign of a lung infection is when the Alpha starts to cough up mucus or phlegm that is yellow or green in colour.

Augmentation therapy for Alpha-1plus

Besides the usual treatments for COPD in general, there is a specific therapy available to Alphas with lung disease.

Augmentation therapy consists of intravenous infusions, usually weekly, of alpha-1 antitrypsin protein purified from healthy plasma donors. The goal is to increase the level of alpha-1 protein in the blood and lungs in order to slow or stop the progression of Alpha-1 lung disease.

Augmentation therapy has been shown to increase blood and lung levels of alpha-1 antitrypsin protein, reduce the rate of decline of lung function, and improve survival.

Augmentation therapy cannot restore lost lung function and is not considered a cure. However, this therapy is currently the standard of care for Alphas with COPD.

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