A 38 year old previously well male non-smoker presents with worsening shortness of breath and deranged liver function tests. A provisional diagnosis of biliary sepsis is made. CT of the abdomen and pelvis reveals basal emphysematous change and a nodular small liver with an irregular contour.
What is the most likely diagnosis?
Sarcoidosis | |
Schistosomiasis | |
Alpha-1 antitrypsin deficiency | |
Haemochromatosis | |
Cystic fibrosis |
Alpha-1 antitrypsin deficiency is a hereditary metabolic disorder that typically affects middle aged adults and manifests as basal panlobular emphysema and hepatic cirrhosis.
Sarcoidosis can affect both the lung and liver however the imaging findings outlined above are atypical (hepatosplenomegaly, upper/mid zone lung disease).
Schistosomiasis can also affect the lung and the liver, typically with small pulmonary nodules and ground glass in the lung and liver cirrhosis.
Haemochromatosis causes liver cirrhosis but does not typically affect the lungs.
Cystic fibrosis can also affect both the liver and the lungs however the patient was previously well, which would not be the case if the patient had a history of CF.