QuestionSBA
QuestionChoice
This is incorrect. Although sarcoidosis can affect both the liver and the lungs, their chest x-ray would likely show granulomas and they would be more likely to have other features such as erythema nodosum, a chronic dry cough and lymphadenopathy.
10027560
e
Sarcoidosis
QuestionChoice
This is incorrect. Although the patient most likely has emphysema, the underlying cause is alpha-1 antitrypsin deficiency rather than COPD.
10027557
b
Chronic obstructive pulmonary disease (COPD)
QuestionChoice
This is incorrect. Although the patient has deranged liver function tests, a diagnosis of chronic viral hepatitis does not explain the respiratory symptoms.
10027559
d
Chronic viral hepatitis
QuestionChoice
This is the correct answer. Alpha-1 antitrypsin deficiency is a genetic condition. Alpha-1 antitrypsin inhibits neutrophil elastase which normally breaks down connective tissue. A deficiency therefore leaves the lungs and liver unprotected from proteolytic damage. It is associated with an increased risk of emphysema and liver damage. The typical presentation is males in their 30s and 40s.
10027556
a
Alpha-1 antitrypsin deficiency
QuestionChoice
This is incorrect. Alpha-1 antitrypsin deficiency carries a higher risk of developing hepatocellular carcinoma, however, this does not itself explain the respiratory symptoms. It is also less likely as the patient has not lost any weight.
10027558
c
Hepatocellular carcinoma
Concept
Chapter
2693
4593
Alpha-1 Antitrypsin Deficiency
Topic
136
Gastroenterology
17909
A 37 year old male attends the GP practice due to abdominal pain that has been present for around 3 months. He describes the pain as a dull ache, 3/10 in severity. More recently he has noticed that the whites of his eyes appear more yellow when looking in the mirror. He has not lost any weight.

He is currently waiting for a respiratory clinic appointment, as he has been struggling with shortness of breath on minimal exertion for around 6 months. He does not smoke or drink alcohol, and takes no regular medications.

Blood results demonstrate deranged liver function tests. A chest x-ray shows hyperexpansion of the lungs and a flattened diaphragm.

Which of the following is the most likely diagnosis?
a