Saturday, 9 October 2010

MRCP revision battle 28.1: Haemochromatosis

I feel like I'm possibly starting to make some inroads into this MRCP revision thing, and my chocolate dependency level has decreased a little.  Today is another random assortment of gems:

MRCP revision battle 28.1: Haemochromatosis
MRCP revision battle 28.2: Syphilis
MRCP revision battle 28.3: Third nerve palsy
MRCP revision battle 28.4: G6PD deficiency
MRCP revision battle 28.5: Kaposi's sarcoma
MRCP revision battle 28.6: Chronic Myeloid Leukaemia
MRCP revision battle 28.7: Gerstmann's Syndrome

MRCP revision battle 28.1: Haemochromatosis

Haemochromatosis is an excessive accumulation of iron.
There is increased intestinal absorption leading to deposition in joints, skin, the heart, liver, pancreas, adrenals and pituitary.

It is an autosomal recessive disorder, inherited on chromosome 6.

Presentation is initially with tiredness and arthralgia

Later problems include:
  • diabetes mellitus (bronze diabetes)
  • slate-grey skin
  • liver disease/cirrhosis
  • cardiac failure/cardiomegaly
  • pseudogout
  • hypopituitism
  • >30% develop hepatocellular carcinoma

Males are affected earlier and more severely than females.

Diagnosis is by:
  • transferrin saturation >50%
  • ferritin >300-500micrograms/l (depending on guidelines)
  • liver biopsy  - Perls stain to show hepatic iron >180micromol/g

Treatment is regular venesection and ?chelation with desferrioxamine

Haemosiderosis is secondary haemochromatosis.  

Causes of haemosiderosis include:
  • beta thalassemia
  • sideroblastic anaemia
  • aplastic anaemia
  • transfusions
  • alcoholic cirrhosis
  • chronic viral hepatitis
  • porphyria cutanea tarda

Thats enough iron for one day... onwards to some syphilis...