Other conditions

Question 1

What are the signs of hereditary haemochromatosis?

Answer 1

Early signs:
Arthralgia
Erectile dysfunction
Fatigue
In middle aged people usually
Later signs:
Skin bronzing
Stigmata of chronic liver failure 
Dilated cardiomyopathy
Diabetes mellitus from iron deposition in pancreas
Hypogonadism from decreased pituitary dysfunction

Question 2

What are the investigation findings in hereditary haemochromatosis?

Answer 2

Increase ferretin, transferrin and LFTs

Question 3

What is the management of hereditary haemachromatosis?

Answer 3

Regular venesection for life to maintain low iron levels

Encourage good diet but do not avoid high iron foods

Question 4

What is wilsons disease?

Answer 4

A rare inherited disease that decreases copper excretion causing increased deposition in liver and CNS

Question 5

What are the presenting features of wilsons disease?

Answer 5

Young children present with liver failure (hepatitis, cirrhosis)
Young adults often start with CNS signs (tremor, dyskinesias)
Decreased mood, libido, mania/depression
Decreased memory
Kayser-fleisher rings

Question 6

How is wilsons disease diagnosed?

Answer 6

Reduced serum caeruloplasmin (carries copper)
Reduced total serum copper (counter intuitive but 95% of copper carried by caeruloplasmin)
Increased 24hr urinary copper excretion

Question 7

What is the management of wilsons disease?

Answer 7

Avoid foods high in copper
Penicillamine (chelates copper) is first line
Other chelating agents available
End stage liver transplatation