24th July 2023

A 42-year-old man is seen by the medical admissions team with abdominal swelling and jaundice

A 42-year-old man is seen by the medical admissions team with abdominal swelling and jaundice. He has a past medical history of COPD and anxiety. He drinks around 4 units of alcohol per week and has never smoked. He works as a carer.

On examination, he is visibly jaundiced, with a distended, non-tender abdomen with shifting dullness. There is no organomegaly. On auscultation of the lungs, there is bilateral air entry, with occasional scattered wheeze. A chest x-ray shows hyperinflated lungs. An ultrasound of the liver shows a nodular, irregular liver and moderate ascites.

You suspect this patient may have an underlying diagnosis of alpha-1 antitrypsin deficiency.

What genotype is this patient likely to have?

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