17th July 2020

A 25-year-old woman presents with significant shortness of breath, of approximately 5-year history

A 25-year-old woman presents with significant shortness of breath, of approximately 5-year history. She has no similar family history, although reports her teenage brother has been admitted to hospital before for “problems with the liver”. She has previously been treated for asthma to poor effect. After further investigation, she is diagnosed with Alpha-1-Antitrypsin (A1AT) deficiency. 

Which of the following statements regarding A1AT is true? 

Select the SINGLE most appropriate option from the list below. Select ONE option only.