haemochromatosis

Question 1

inheritance pattern of haemochromatosis

Answer 1

autosomal recessive
mutation in HFE gene on chromosome 6

Question 2

what is haemochromatosis

Answer 2

autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation

Question 3

initial symptoms of haemochromatosis

Answer 3

lethargy and arthralgia
erectile dysfunction

Question 4

presentation of haemochromatosis

Answer 4

fatigue, erectile dysfunction and arthralgia
bronze skin
diabetes
liver: chronic liver disease, hepatomegaly, cirrhosis
cardiac failure (dilated cardiomyopathy)
hypogonadism (cirrhosis and pituitary dysfunction)
arthritis

Question 5

screening for haemochromatosis

Answer 5

general population: transferrin saturation also ferritin (normal in early stages)
family members: genetic test for HFE mutation

Question 6

typical iron study in patient with haemochromatosis

Answer 6

transferrin saturation > 55% (>50% in women)
raised ferritin and iron
low TIBC

Question 7

further investigation in haemochromatosis

Answer 7

liver function test
genetic test
MRI to quantify liver and cardiac iron
liver biopsy if suspected hepatic cirrhosis

Question 8

management of haemochromatosis

Answer 8

venesection
- transferrin saturation kept below 50% and serum ferritin below 50
desferrioxamine used second line