Haemochromatosis

Question 1

Define haemochromatosis

Answer 1

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

Question 2

Aetiology of haemochromatosis

2

Answer 2

Autosomal recessive - but not everyone homozygous develops clinical disease
Caused by defect in HFE gene

Question 3

Epidemiology of haemochromatosis

Answer 3

Rare

Question 4

Presenting symptoms & signs of haemochromatosis

3

Answer 4

General
Early
Late

Question 5

Presenting symptoms & signs of haemochromatosis - general

3

Answer 5

Often ASYMPTOMATIC until late stages of disease
Symptoms usually start between 40-60 yrs
May be incidental finding (e.g. LFTs, serum ferritin)

Question 6

Presenting symptoms & signs of haemochromatosis - early

5

Answer 6

Fatigue
Weakness
Arthropathy
Erectile dysfunction 
Heart problems

Question 7

Presenting symptoms & signs of haemochromatosis - late

9

Answer 7

Diabetes mellitus
Bronzed skin
Hepatomegaly
Impotence
Amenorrhoea
Hypogonadism
Cirrhosis 
Cardiac - arrhythmias & cardiomyopathy
Neurological & psychiatric problems

Question 8

Investigations for haemochromatosis

6

Answer 8

Haematinics

Tests to exclude other causes of high ferritin

LFTs

Other investigations for abnormal liver function
(e.g. hepatitis serology)

Genetic testing

Liver biopsy
(rarely required)

Question 9

Investigations for haemochromatosis - haematinics

4

Answer 9

Serum ferritin - HIGH
Transferrin - LOW
Transferrin saturation - HIGH
TIBC - LOW

Question 10

Investigations for haemochromatosis - to exclude other causes
(3)

Answer 10

CRP - inflammation
Chronic alcohol consumption
ALT - liver necrosis