Haemochromatosis

Question 1

Define Haemochromatosis?

Answer 1

An autosomal recessive disease in which increased intestinal absorption of iron causes accumulation of iron in tissues, which may lead to organ damage

Question 2

What is the aetiology of Haemochromatosis?

Answer 2

Autosomal recessive
Caused by a defect in the HFE gene
The genetic penetrance of haemochromatosis is complex - not everyone who is homozygous will develop the clinical disease

Question 3

What is the epidemiology of Haemochromatosis?

Answer 3

RARE

Question 4

What is the onset of symptoms of Haemochromatosis?

Answer 4

Often asymptomatic until the late stages of the disease

Symptoms usually start between 40-60 yrs

Question 5

What are the early symptoms of Haemochromatosis?

Answer 5

Early symptoms are vague:

• Fatigue
• Weakness
• Arthropathy
• Erectile Dysfunction
• Heart problems

May be an incidental finding (e.g. LFTs, serum ferritin)

Question 6

What are the late symptoms of Haemochromatosis?

Answer 6

Diabetes mellitus
Bronzed skin
Hepatomegaly
Impotence 
Amenorrhoea 
Hypogonadism
Cirrhosis 
Cardiac - arrhythmais and cardiomyopathy
Neurological and psychiatric problems

Question 7

What investigations would you do for Haemochromatosis?

Answer 7

Haematinics
Tests to exclude other causes of high ferritin
LFTs
Other investigations for abnormal liver function
Genetic testing
Liver biopsy (rarely required)

Question 8

What haematinic tests do you do for Haemochromatosis?

Answer 8

Serum ferritin (HIGH), transferrin (LOW), transferrin saturation (HIGH), TIBC (LOW)

Question 9

What are some of the problems of haematinic tests?

Answer 9

Serum ferritin is not very specific because it is an acute phae protein
Serum iron concentration and transferrin saturation do not accurately reflect total body iron stores

Question 10

What tests can you do to exclude other causes of high ferritin for Haemochromatosis?

Answer 10

CRP - inflammation
Chronic alcohol consumption
ALT - liver necrosis