Environmental factors like smoking or chemical exposure are usually the culprit in lung disorders like COPD or emphysema. However, some of those cases are actually driven by genetics.<\/p>\n
We inherit our appearance and even personality traits, from our families.<\/p>\n
We can also inherit medical conditions such as Alpha-1 Antitrypsin Deficiency.<\/p>\n
“Alpha 1 is a protein that our body makes. It’s part of a pathway that helps us to repair the lungs,” says Dr. Andrew Gangemi, a Temple Health thoracic specialist.<\/p>\n
Dr. Gangemi says people with mutations in the SERPINA 1 gene don’t make enough Alpha 1 to protect the lungs.<\/p>\n
“You have this unregulated destruction, which can happen in the lungs, causing emphysema,” he explains.<\/p>\n
That emphysema causes symptoms like shortness of breath, wheezing, a chronic cough, frequent chest colds, and fatigue.<\/p>\n
Alpha 1 deficiencies can also affect the liver, causing jaundice, swelling of the legs or belly, or itchy skin. Some people have mild symptoms or none at all.<\/p>\n
“We also get very suspicious when we start to see people with a strong family history of emphysema, you know, especially if it’s happening at early ages in a lot of other family members,” Dr. Gangemi.<\/p>\n
Alpha 1 deficiencies can first show in a person’s 20s, but are more common in the 30s, 40s, or early 50s.<\/p>\n
Sometimes, the deficiencies cause specific patterns on CT scans.<\/p>\n
“But the real way that we have to diagnose it is with both blood testing and genetic testing,” says Dr. Gangemi.<\/p>\n
If tests confirm the Alpha-1 antitrypsin deficiency, the most important step is – Don’t smoke, because there’s not enough protein to protect the lungs.<\/p>\n
If treatment is needed, there’s replacement therapy, using protein taken from the blood of healthy donors. That slows down the loss of breathing capacity.<\/p>\n
“Getting treatment early tends to lead them to higher amounts of functional lung tissue compared to those who have not been treated with this protein,” Dr. Gangemi notes.<\/p>\n
And he says the treatment generally causes minimal, or no side effects.<\/p>\n
Although there’s no cure for Alpha 1 deficiencies, with early recognition and treatment, people with them can still lead long lives.<\/p>\n
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