Retired police officer Dee Kroecker is living with Alpha-1 antitrypsin deficiency, a hereditary condition in which the body does not produce a protein known as alpha-1 antitrypsin. The rare disease is also known as genetic chronic obstructive pulmonary disease (COPD) or inherited emphysema.
The Alpha-1 protein plays an important role in protecting the lungs from damage due to excessive inflammation. Without this protein present in the blood, lungs may weaken over time and place someone at a higher risk for developing serious diseases, such as emphysema and COPD. An abnormal amount of Alpha-1 in the liver can also cause liver disease.
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Despite her diagnosis, Dee leads an active life. In 2015, she climbed Mt. Rainer, one of the most prominent mountain peaks in the U.S.
“It’s important to work towards your goals,” Dee said. “Live with your disease, put it in the backseat and drive toward what you want to achieve.”
While Dee has received an accurate diagnosis, others aren’t as fortunate. The Alpha-1 Foundation estimates that more than 100,000 Americans may have Alpha-1 but only 10 percent of these cases have been properly diagnosed and up to 3 percent of people diagnosed with COPD may have undetected Alpha-1.
The importance of early diagnosis and intervention
Alpha-1 is commonly first misdiagnosed as asthma or COPD. One study shows that 43 percent of Alpha-1 patients see at least three doctors before receiving a correct diagnosis--and that it takes an average of nearly eight years from first symptoms to diagnosis. During that time, lung damage progresses.
The American Thoracic Society (ATS) recommend Alpha-1 screening for people who have one of the following:
- COPD, emphysema, or irreversible asthma
- a family history of Alpha-1, lung or liver disease
- recurrent pneumonia or bronchitis
- unexplained liver disease
Alpha-1 can be diagnosed through a simple blood test conducted by a healthcare professional.
For those who do receive an Alpha-1 diagnosis, Dee says, “You are not alone. Stay positive and pursue your dreams.”
For more information, visit: https://www.cslbehring.com/patients/find-your-disease/alpha-1-antitrypsin-deficiency.