Alpha-1: When COPD is Genetic

Health Professional

Many patients assume that COPD is a condition that develops over many years as a result of damage to the lungs from cigarette smoke. How do we then explain the presence of COPD in young individuals, and in some cases, in those who have never smoked? When they exhibit "shortness of breath" it can resemble asthma, but it's not. These are people who have all the classic changes in the anatomy of their lungs, similar to COPD, without clear explanation as to what has caused the condition.

Think of the lungs as a balloon that inflates and deflates with every breath.  There is a degree of elasticity in the lungs that allows all the air that enters to leave, spontaneously, without any effort.   At the same time, there is a limit to this element of elasticity that prevents the lungs from totally collapsing. In order to achieve this perfect balance of just enough elasticity to exhale all the air that is inhaled, while still allowing the lungs to remain inflated, a number of chemical enzymes come into play.

Without mentioning all the enzymes involved, a key element is a protein called alpha one antitrypsin.   This protein inhibits another enzyme called neutrophil elastase that inhibits the elasticity of the lungs.  Some individuals have a genetic makeup that makes them deficient in alpha one antitrypsin. This condition allows neutrophil elastase to act unopposed, causing the lungs to lose its elasticity.   As a result, with every breath the person takes, there is expansion of the lungs, with more air coming in and less air being released or expelled.  This is the essence of emphysema, and in this case there is no instigating exposure to cigarette smoke. If these individuals who are alpha one antitrypsin deficient choose to smoke, they are more vulnerable to the effects of cigarette than others without the defect.

Who is most at risk for alpha-1?

It is estimated that 1 in 1,500 to 3,500 individuals with European ancestry have the disease.   The typical presentation is a young individual in their early 20s that has shortness of breath with an abnormal chest X-ray showing hyperinflation (a clinical term describing over-expanded lungs).   The diagnosis can be made with a blood test that measures the level of this enzyme.

The difficulty comes in determining what is the genetic make up of the individual. The production of this protein comes from a single gene called the Serpina 1 gene. There are several mutations of this gene.   That can result with different people having the ability to form normal quantities of the protein or being severely deficient in the amount of the protein. Of course, environmental factors such as exposure to tobacco smoke, chemicals, and dust can impact the severity of this deficiency.

**Treatment option **

What is the relevance of this information, to you, the patient?   First, if you have this condition, it's important to avoid exposure to noxious elements like cigarettes.   You should also avoid activities like scuba diving.    Secondly, some patients may qualify for treatment.     Individuals with the severe deficiency can be treated with replacement therapy, with a synthetic form of this protein. It is an expensive therapy costing between $70,000 and $100,000 per year.   There is also no guarantee that the disease will not continue to progress over time.  Other organs are also often involved in the condition, with the development of liver cirrhosis often inevitable.   The therapy will not prevent this progression.

Awareness is the first step. Do not wait until the damage is done.