Managing Genetic COPD

By Wissam Chatila, MD, PhD, as told to Kara Meyer Robinson

When you learn you have genetic chronic obstructive pulmonary disease (COPD), the first step is to educate yourself about your diagnosis.

If you have genetic COPD, also called alpha-1, it means you have low levels of alpha-1-antitrypsin (AAT). That’s a protein made in the liver that travels through your bloodstream and protects your lungs. If there’s too little AAT circulating in your blood, you can get liver disease or lung disease.

It’s important to be aware of treatments and other resources that are available to you. Since this is a genetic condition, you may want to consider screening your family members, too.

Managing Alpha-1: A Step-by-Step Strategy

I use a variety of strategies to help patients manage alpha-1.

First, I do blood tests to establish their genotype, or type of genetic defect. This helps me see whether they meet the criteria for augmentation therapy.

Augmentation therapy, or replacement therapy, uses AAT from donors to increase AAT in your lungs and prevent more damage. It may be good for certain patients, but not others.

Seeing the big picture helps me personalize their therapy as much as possible, based on the traits of their disease. For example, certain therapies such as inhalers and anti-inflammatory drugs, or procedures such as placing valves in the airways, may work better under certain circumstances.

Next, I educate my patients. I tell them how important it is to stick with their treatment plan and avoid triggers. This is essential to prevent rapid lung decline and permanent loss of lung function.

I teach my patients about how serious their COPD is. I also tell them about illnesses that often occur along with alpha-1, including liver disease, vascular disease, and inflammation of vessels and skin. Other diseases linked to COPD include:

• Diabetes
• Kidney disease
• Heart disease
• Depression
• Anxiety

I emphasize how important it is to take care of their health in general. This includes age-appropriate screenings like colonoscopies, mammograms, and prostate exams. It also includes low-dose CT scans for lung cancer screening, testing for lipid and blood sugar levels, and mental health and sleep screenings.

If a patient is a good fit for augmentation therapy, I work with them to get approved for treatment.

I also introduce them to the Alpha-1 Foundation. This group has a confidential registry to promote research and development of new treatments. They also offer opportunities to take part in clinical trials.

Next, they start therapy. We schedule follow-up visits to see if their treatment plan is working and to look for problems that may come up.

Taking Care of Your Lungs

If you have genetic COPD, avoiding triggers is key to maintaining lung function.

When you’re exposed to triggers, you run the risk of rapid and progressive decline of your lung function. Your symptoms may get worse. Your quality of life may be reduced. You may need oxygen therapy and advanced treatments like a lung transplant. It may eventually lead to death.

Common triggers include tobacco smoke, environmental pollutants, and pollutants on the job. Environmental triggers include air pollution such as burning wood. Occupational triggers include various types of dust, chemical agents, and other fumes. Ideally, you should avoid smoking and all other triggers.

Repeated flare-ups, such as bronchitis that keeps coming back, also contribute to worsening lung function.

For flare-ups, your doctor may recommend aggressive therapy with inhalers, anti-inflammatory medications, and antibiotics. They’ll tailor your treatment according to how often you have flare-ups and how serious they are. 

Following Your Treatment Plan

It’s very important to follow your treatment plan. This determines how your body responds to the therapy, both short- and long-term. It’s also crucial to maintain lung health for your whole life.

Certain things make a big difference in your well-being and quality of life. They include: 

• Managing your other health conditions
• Taking care of your mental health
• Exercise
• Getting good nutrition
• Getting enough sleep
• Use of oxygen if you need it

You often need to make behavior and lifestyle changes to succeed against COPD and AAT deficiency. People with AAT deficiency who are frail, lose a lot of weight, and have mental distress often do poorly. 

Getting Support

Get involved in a pulmonary rehabilitation program, which you can find in many hospitals. If you smoke, look for a smoking cessation program. These programs make a real difference in how well you do with COPD.

Take advantage of support resources. Relying on family, adjusting your social and environmental conditions, and joining support groups can help you manage life with COPD.

What You Should Know

Many people don’t realize how complicated alpha-1 is. It’s a lifelong condition that requires a lifelong commitment to therapy. But the future is bright. And as long as you comply with your treatment plan, current therapies work.

The outlook is very promising. Several newer therapies are now being tested.

New treatments include biologics, which are drugs that work on the actual mechanisms of the disease instead of just relieving symptoms. These medications may help slow lung destruction or replace the need for augmentation therapy. Other treatments aim to regenerate the healthy lining of your airways.

It’s exciting. New studies may lead to advances not only in alpha-1, but also in treating COPD.