You are looking at a picture of one of the greatest men you will ever meet. Although it may be hard to believe, he has a boyish charm that is quite possibly more adorable than the tiny puppy on his lap. His life stories are almost unbelievable (Forrest Gump has nothing on him!), from his deep sea diving for glowing rocks to being in the Navy to his childhood stories from back East. Although I do not share his genetics and did not grow up with him from birth, he is a man I am proud to call one of my fathers. He laughs with (or at!) me all the time, he is one of the few who can match me in dessert consumption, and he has one of the kindest, most gentle souls I am around in my life (although his Irish exterior may try to trick you…someone as clever as me cannot be fooled). There are few men in my life that I love the way I do him, and I try to spend as much time as I can with him to have a great male figure around.
He also is affected by a terrible disease, emphysema. And no, he has never smoked a day in his life. Unlike the millions of Americans who get this disease from their own actions, he suffers a rare form by genetic inheritance from both his mother and father. Because he is such a fighter, I rarely hear a word of complaint from him. But, in order to better understand his condition as well as inform the public about a major killer in the United States, I have chosen to write this article on emphysema.
Emphysema is a long term, progressive disease that is under the category “COPD” or Chronic Obstructive Pulmonary Disease. Not everyone who smokes gets emphysema, and likewise not everyone who abstains from smoking does not get emphysema.
There are typically two ways that one develops emphysema: smoking or alpha-1 antitrypsin deficiency.
Smoking-induced emphysema is the most common and most preventable type of emphysema. Cigarette smoke destroys the lung tissue as well as causes inflammation of the airway that makes the disease even worse. The smoke destroys the cilia over time, which carries harmful pollutants out of the lungs and out through the nose. Without cilia, pollutants become trapped in the lungs, eating away at the tissue. The immune cells sent to fight these pollutants also become compromised by the poisons in the cigarette. Over time, this leads to an increased secretion of the enzyme neutrophil elastase, which will be further explained below.
The latter type of emphysema, Alpha-1, is caused when a person does not inherit a protective protein called alpha-1 antitrypsin (AAT), which is created in the liver. There is a natural enzyme in the body called neutrophil elastase. This enzyme breaks down damaged or aging cells or bacteria in the lungs, which is useful in keeping the lungs healthy. However, this enzyme has no sense of stopping. Thus, AAT is released by the body to inhibit the neutrophil elastase from destroying the lungs. For those individuals with no AAT, the neutrophil elastase has nothing to stop it, which leads to a continual destruction of lung tissue.
Pathology: Although the origin between the two types of emphysema differs, the development and symptoms are very similar. LungUSA has a great description of how the disease develops:
“Emphysema begins with the destruction of alveoli, small sac-like structures (resembling bunches of grapes) in the lungs where oxygen from the air is exchanged for carbon dioxide in the blood. The walls of the alveoli are thin and fragile, and are easily damaged.
The damage is irreversible and results in permanent “holes” in the tissues of the lower lungs. As alveoli are destroyed, the lungs are able to transfer less and less oxygen to the bloodstream, causing shortness of breath during exercise and eventually even at rest.
The lungs also lose their elasticity, so the patient experiences great difficulty exhaling. The bronchial tubes leading to the air sacs may collapse, which traps air in the lungs. This is the condition known as emphysema.”
- Shortness of breath
- Chronic cough
- Sputum (phlegm) production
- Recurring chest colds
- Swelling in abdomen or legs
- Loss of appetite or weight loss (due to the increased difficulty in eating)
- Decrease in ability to exercise
- Year-round allergies
- Liver problems
- “Barrel Chest”, where the distance from the chest to the back increases as a result of trapped air
Age of Onset: Alpha-1 tends to develop between the ages of 32-41. Smoking-induced depends on the age of onset of smoking, amount of smoking, etc.
Diagnosis: Alpha-1 can be detected through a simple blood or liver function test. Other types of emphysema can be diagnosed through a chest x-ray, or various lung function tests which measure the amount of air expelled by the patient.
Morbidity (# of people affected): About 100,000 Americans are born with Alpha-1 Emphysema, and it affects a majority of those with it. It is estimated by the World Health Organization (WHO) that 116 million people worldwide are carriers of this disease.
Mortality (# of deaths): As the fourth leading cause of death, about 100,000 Americans die annually from this disease.
Treatment: For those with smoking-induced emphysema, the most important thing to do is STOP SMOKING. Not only does it halt the progression of the disease, it may actually improve over time.
Some doctors prescribe steroid therapy to those with emphysema to decrease the swelling in the body.
Also, depending on the severity of the disease, many people receive oxygen treatments, whether in the hospital or the home. This provides a more concentrated dose of “good” air, which maximizes the person’s ability to oxygenate their blood.
Alpha-1 can be treated with replacement therapy. The patient is infused with derivatives of human plasma which raises the level of AAT in the blood, halting the activity of the neutrophil elastase. It cannot be used for patients who have smoking-induced emphysema. It also does not cure the disease, but rather halts the progression. It is most effective in patients who start at the initial onset of symptoms and continue treatment throughout their life.
Those affected may also opt for a lung and/or liver transplant, depending on where the AAT deficiency more greatly affects the body. However, because of the lack of oxygen, many other vital organs can be compromised, and those who receive a transplant must take a wide regime of anti-rejection medication, which can cause side effects just as bad as the disease itself.
In addition, people with emphysema should stay out of areas with harmful pollutants, and keep breathing treatments on hand. Although there are several treatments, there is no current cure for this disease.
- Alpha-1 type Emphysema was discovered in 1963 by Carl-Bertil Laurell in Sweden.
- Types combined, emphysema is the fourth leading cause of death in the United States.
- Spencer Tracy, Dean Martin, Samuel Beckett, T. S. Eliot, and Johnny Carson all suffered from emphysema.
- 70% of all doctor visits are respiratory related
- About 1,000 people receive lung transplants each year
- During a normal 24-hour period, the average number of breaths taken by a human is 23,040
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