My oldest son recently started having some difficulity breathing, he had SOB on exertion, even just walking up & down stairs. At first it was thought to be bronchitis but a chest x-ray showed " 2 spots" which from my sons description sounded like blebs or bullea. He's not a smoker tho he did smoke marijuana as a teen. His "blood tests" have come back w/i normal limits. Should he be tested for AAt deficiency? And isn't that hereditary? In that case wouldn't someone else in the family have it too? Only recent medical history (w/i past 2 years) is the removal of his Gall Bladder. Other than that he's in pretty good shape. He lives a rather active life.
Unless the bullae are quite large and unless he has chronic obstructive pulmonary disease (COPD), the bullae are unlikely to be the cause of his rather impressive shortness of breath with exertion for a 37 year old non-smoker. Asthma is common at age 37 but for asthma to cause this degree of shortness of breath, it would almost always be apparent on physical exam and definitely apparent on pulmonary function tests (PFTs).
If his chest x-ray is clear, save for the blebs/bullae, he should definitely have PFTs, and either way, should as you suggest, have a blood alpha-1 antitrypsin (AAT) level done. This condition is hereditary but it is caused by recessive genes and he could have it without any other family member being clinically afflicted.
Unexplained shortness of breath in a healthy man, your son’s age, would also raise suspicion of the diagnosis of recurrent pulmonary emboli, also known as clots to the lung, or heart disease such as a cardiomyopathy or pulmonary hypertension with or without clots.
He should discuss these suggestions with his doctors. He should not desist from further evaluation until an explanation for his symptoms is forthcoming. If his doctors are unwilling to do so, he should request a second opinion with a heart or lung doctor.
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