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Young with COPD?

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Dear COPD Coach,
I was born with lung “issues” growing up, and doctors told my parents I had asthma. Over time my breathing just kept getting worse. As a result, I have never smoked a single cigarette, and I have never been around people who smoked. In 2009 I was in the hospital for pneumonia and doctors took x-rays and CT scans of my lungs. Soon after they dropped the bomb – I had COPD. I was born in 1977, and always thought COPD was a disease that only affected people in their 60s and 70s. I was tested for Alpha-1 and the results came back "abnormal." How rare is for a non-smoker my age to have COPD?

-Perplexed

Dear Perplexed,
It is far more common for young people to be diagnosed with COPD than ever before. This is due in large part to more awareness of COPD in recent years by both healthcare professionals and the public. COPD has historically been perceived as an "old person's disease," but we are learning this is not always the case. In fact, the average COPD patient is between 45-55 years of age. Oftentimes, symptoms of early lung disease are not recognized by the individual until the disease is much more advanced, even to the point of being debilitating later in life. It is very easy to justify our symptoms by thinking we are out of shape, prone to colds and flu. Most often, we become great compensators, and if we get out of breath doing an activity, we make sure to avoid that activity in the future. The truth is that the earlier COPD is diagnosed and treated, the better the prognosis!

Alpha-1 Anti-trypsin Deficiency is one cause of early diagnosis for COPD. Alpha-1 is a genetic form of COPD caused by producing too little anti-trypsin, no anti-trypsin, or a mutated version of anti-trypsin (which often causes liver problems). Anti-trypsin is a protein produced in the liver that travels through the bloodstream and protects our organs from the effects of other proteins, particularly the lungs. The absence of or reduced amount of anti-trypsin can result in early emphysema.

Young with COPD Alpha-1 is considered to be a rare disease, and many Alphas go years before diagnosis is finally made. By this time, the damage to the lungs is usually more severe. Many are never diagnosed! Alpha-1 is often the cause of liver disease, and a leading cause of liver disease in infants and young children. The only cure for Alpha is a liver transplant.

While all of this information might seem like gloom and doom, there is some hope. Augmentation therapy is available that replaces the anti-trypsin, and has been found to slow down the progression of further lung damage. Research into Alpa-1 has been greatly expanded, which also shows promising results. Alphas experience an unparalleled support system through the Alpha-1 Foundation and Alpha-Net through sponsored research, education days, genetic counseling, educational materials and conferences.

Since Alpha-1 is an inherited genetic disease, the Alpha-1 Foundation advocates early testing, especially in families with a history of lung disease. Children of Alphas should be tested because even if one parent carries the gene, the children can be carriers and pass the gene on to their offspring. Carriers of Alpha-1 can also experience some of the same symptoms of Alphas and some even require the same augmentation therapy.

I would encourage you to get in contact with the Alpha-1 Foundation and gather more information. Ask your doctor to explore if augmentation therapy as well.

The COPD Foundation encourages all COPD patients, especially those with a family history of lung disease to be tested for Alpha-1.

Hope this helps, and my very best wishes.

-The COPD Coach

Ask the Expert is aimed at providing information for individuals with COPD to take to your doctor, and is not in any way intended to be medical advice. If you would like to submit a question to the Coaches Corner email us at coachescorner@copdfoundation.org. We would love to hear your questions and comments. You can address your emails to any of the following: COPD Coach, Caregiver Coach, COPD Doctor or COPD RT.

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