Do my symptoms suggest a genetic lung disease?
Patient's Query
Hi doctor,
I am a 40-year-old male who has been running marathons for years. Lately, I have noticed some shortness of breath that is not improving with conditioning. I recently did a health screen for a new job and found mildly elevated liver enzymes. My father died of emphysema, even though he never smoked. Please tell me:
- Could this be alpha-1 antitrypsin deficiency?
- Should I ask for genetic testing or a blood test, even though I am very active?
Please help.
Thank you.
Hello,
Welcome to icliniq.com.
I can understand your concern.
I am truly sorry to hear about your struggles. Your complaints are most likely to be related to alpha 1 antitrypsin deficiency. Alpha-1 antitrypsin deficiency is a genetic disorder that may result in lung disease or liver disease. The onset of lung problems is typically between 20 and 50 years of age.
This may result in shortness of breath, wheezing, or an increased risk of lung infections. Blood test to check the level of alpha-1 antitrypsin protein in your body. If your levels are low, genetic testing with another blood test may be used to identify any abnormal genes. Lung function tests, like a spirometry test, cannot diagnose AAT deficiency, but they can tell how well a person's lungs are working.
I hope this information will help you.
Thank you.
Same symptoms don't mean you have the same problem. Consult a doctor now!
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