Why am I having a persistent cough and shortness of breath?

Question

Hello doctor,

I have developed a persistent, chronic cough and progressive shortness of breath over the past year, especially during exercise or when climbing stairs, which has limited my ability to stay as active as I used to be. I am only in my early 40s, but I feel like my respiratory capacity and lung function have declined significantly, similar to that of someone much older. I have never smoked cigarettes in my entire life.

My chest X-ray and pulmonary function tests showed some concerning changes and abnormalities in my lungs, and my doctor mentioned that I might have a genetic lung condition. I also have a family history of early-onset emphysema and liver disease in relatives who never smoked, which makes me suspect this could be hereditary.

Could this be a genetic enzyme deficiency affecting both my lungs and liver, and what blood tests can help identify this condition?

Kindly advise.

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern.

The condition you have described fits closely with alpha-1 antitrypsin deficiency (AATD). In AATD, the liver produces too little of a protective protein known as alpha-1 antitrypsin (AAT). Without sufficient AAT in the bloodstream, the lungs become prone to damage, leading to early-onset emphysema. In the liver, retained AAT can also trigger liver injury.

For testing, a quantitative serum AAT level is recommended, which helps determine whether a deficiency exists. A C-reactive protein (CRP) test done on the same day is also preferred. If AAT deficiency is confirmed, the next steps involve phenotyping and genotyping to determine whether the variant is severe or mild.

Imaging, such as chest X-ray and computed tomography (CT), is also very helpful. Pulmonary function tests (PFTs) often show obstruction with low diffusing capacity for carbon monoxide (DLCO), which may require the use of inhaled bronchodilators.

Since AATD can also affect the liver, I recommend performing liver function tests (LFTs), and if abnormalities are found, follow up with ultrasonography.

Family screening is important. I would like to advise cascade testing for adult siblings and parents so that carriers or affected relatives can avoid accelerants such as smoking and dusty environments, get vaccinated early, and undergo regular follow-up. Genetic counseling can also help the family interpret results and plan appropriate preventive measures.

I hope you are satisfied with my answer. For further queries, you can consult me at iCliniq.

Thank you.