iatroX Rounds #6
The clues
- 1
A 52-year-old woman presents to her GP complaining of profound fatigue that has been worsening over several months.
- 2
On further questioning, she describes a distressing, generalised itch that is particularly troublesome at night and is not associated with a rash.
- 3
Her past medical history includes hypothyroidism and she frequently uses artificial tears to manage symptoms of dry eyes.
- 4
Physical examination reveals scratch marks on her arms and back, alongside yellowish cholesterol deposits on her eyelids.
- 5
Initial blood tests show a significantly raised alkaline phosphatase and gamma-GT, while the bilirubin and transaminases are only mildly elevated.
- 6
Serological testing shows a high titre of anti-mitochondrial antibodies, which are directed against the E2 subunit of the pyruvate dehydrogenase complex.
Primary biliary cholangitis is a chronic autoimmune liver disease involving the progressive destruction of the small intrahepatic bile ducts, leading to cholestasis and potential fibrosis. It predominantly affects middle-aged women and is frequently associated with other autoimmune conditions like Sjögren's syndrome and systemic sclerosis.
- Lethargy and pruritus are often the presenting symptoms
- Cholestatic pattern of liver function tests with a raised alkaline phosphatase
- Presence of xanthelasmata and xanthomata due to hypercholesterolaemia
- High association with anti-mitochondrial antibodies
for education and entertainment. not medical advice.