QuestionSBA
QuestionChoice
The vignette does mention an alcohol history in this case. This should however be explored. Alcohol abuse would not explain the respiratory symptoms.
10035579
c
Alcoholic cirrhosis
QuestionChoice
This is a disorder of sleep breathing in obese patients which results in daytime hypercapnia and is associated with obstructive sleep apnoea. It would not produce the liver or respiratory findings in this case.
10035580
d
Obesity hypoventilation syndrome
QuestionChoice
This is correct. The patient has features of chronic liver disease and respiratory symptoms in keeping with obstructive pulmonary disease. The combination in a young non-smoker is typical of alpha 1 anti-trypsin deficiency.
10035577
a
Alpha-1 Antitrypsin Deficiency
QuestionChoice
Chronic myeloid leukaemia may result in hepatomegaly and recurrent respiratory infections. However, it does not explain the other symptoms of chronic liver disease and the patient describes no other symptoms of chronic myeloid leukaemia e.g. pallor, fatigue, easy bleeding and bruising.
10035581
e
Chronic myeloid leukaemia
QuestionChoice
This may cause chronic liver disease, with obesity commonly predisposing. The patient is however quite young to develop non-alcoholic fatty liver disease and it does not explain the respiratory symptoms.
10035578
b
Non-alcoholic fatty liver disease
Concept
Chapter
2693
4593
Alpha-1 Antitrypsin Deficiency
Topic
136
Gastroenterology
19519
Alpha-1 Antitrypsin Deficiency can present with liver disease and respiratory symptoms, particularly in young, non-smoking individuals.
A 35-year-old man attends the GP due to skin yellowing. On examination, he has hepatomegaly with jaundiced skin and spider naevi. He reports troublesome cough, breathlessness and wheezing over the last year. He is not a smoker and is obese.

What is the most likely underlying diagnosis?
a