Can a 25 year old get alpha-1 when both parents carry gene?

Question

Hello doctor,

I am 25 years old, and my parents have both been found to be carriers of the gene for Alpha-1 antitrypsin deficiency. In recent days, I have realized that I seem to get out of breath easily whenever I engage in physical activity. This has caused me to worry that I, too, might be suffering from this ailment due to inheritance.

Is there any chance of having symptoms of Alpha-1 antitrypsin deficiency despite the young age of 25 if both parents are carriers?

Though I do not smoke, I used to vape socially at college for a few years. After learning about the dangers associated with vaping and damage to the lungs, I am worried now about whether that could affect me.

Any help in this regard will be appreciated.

Thank you very much.

Answer 1

Hi,

Welcome to icliniq.com.

I understand your query.

Yes, you can inherit alpha-1 antitrypsin deficiency if both of your parents carry this condition or are affected by it. Though symptoms pertaining to lungs usually become obvious later in life, some patients might suffer from symptoms like cough or breathing difficulty at a younger age.

It is great that you do not smoke and have stopped vaping because both these habits might aggravate the risk of damage to the lungs in individuals having alpha-1 antitrypsin deficiency.

I suggest considering the following tests to consult with your doctor:

Alpha-1 antitrypsin blood levels.
Testing for alpha-1 antitrypsin genotype.
Pulmonary function testing or spirometry.
High-resolution CT scan (HRCT) of the chest, if your physician finds it necessary based on clinical considerations.

With an early diagnosis of the condition, it is possible to control the process of the disease development and preserve lung health. Measures that include abstinence from smoking and vaping, keeping up to date with vaccinations, regular physical exercise, and adequate treatment of any airway diseases, if present.

Wish you all the best.

Feel free to contact me if you have any queries or concerns