Proclamation highlights rare genetic condition

Brian Pelletier of Caribou acquired a proclamation this month from Governor Paul LePage declaring November as Alpha-1 Awareness Month. This publicity effort is led by individuals throughout Maine and the U.S. affected by alpha-1 antitrypsin deficiency (alpha-1), a rare genetic condition that can cause life-threatening liver disease in children, and can also lead to severe liver and lung disease in adults.    According to Pelletier, “For many years I was suffering from unexplained long periods of bronchitis. My lung function went down to 50 percent capacity and I was always out of breath. This made no sense to me, as I was active and only 41 years old. Every time I went to my family physician, he had no idea what was wrong with me.”
Pelletier added, “Finally, after my wife made me do some additional research and get my blood tested, I was diagnosed as having alpha-1. Soon afterward, I went to a new physician that lived four hours away who knew about alpha-1.”
The new physician, Pelletier explained, put him on augmentation therapy — weekly intravenous infusions of alpha-1 antitrypsin derived from human plasma. “The therapy is intended to slow or stop the progression of my lung destruction,” he said.
According to the Alpha-1 Association in Miami, alpha-1 antitrypsin deficiency is an inherited condition that may lead to deterioration of the lungs and liver. All too often, the disorder causes permanent and even deadly organ damage because of delayed diagnosis. Alpha-1 affects approximately 100,000 people nationwide and less than 10 percent of those living with it have been properly diagnosed. An estimated 20 million people in the U.S. are undetected carriers of an abnormal gene that causes alpha-1 and could unknowingly pass it on to their children.
Pelletier encouraged those who have just been diagnosed with alpha-1 that there is help available. “Get all the information you can about it, become involved with both the Alpha-1 Association and Alpha-1 Foundation, stay active, eat well and stay positive. It is also important to spread awareness because far too many people just don’t understand the condition. I hope this proclamation gets more people tested.”
“People with chronic breathing problems or unexplained liver disease could be suffering from alpha-1 and should ask their doctors about testing,” said Michael Krowka, MD, of the Mayo Clinic. A simple, accurate, free blood test is available to determine if lung or liver problems are due to the deficiency. For testing information, individuals may call the Alpha-1 Association’s genetic counselor at 1-800-785-3177.     The Alpha-1 Foundation’s Medical and Scientific Advisory Committee (MASAC) recommends that individuals diagnosed with the following diseases should be tested for alpha-1: chronic obstructive pulmonary disease, emphysema, bronchiectasis, chronic bronchitis, asthma that is incompletely reversible after aggressive treatment, chronic liver disease, unexplained liver disease in infants and children, and the skin disease panniculitis.
For further information, contact the Alpha-1 Association at www.alpha-1.org or the Alpha-1 Foundation at www.alpha-1foundation.org.