Haemochromatosis

Question 1

Define Haemochromatosis

Answer 1

An inherited disorder of iron metabolism in which an increase in intestinal absorption leads to iron deposition in organs + iron release from macrophages

Question 2

Aetiology of haemochromatosis

Answer 2

Autosomal recessive disorder (mutation in hepcidin protein)
Gene responsible for most is HFE (chromosome 6p)

May be acquired due to multiple blood transfusions (Iron recycling when RBC dies)

Question 3

Risk factors for Haemochromatosis

Answer 3

Male 
Middle age 
White 
Family history 
Supplemental iron

Question 4

Epidemiology of Haemochromatosis

Answer 4

Most common inherited condition in Northern Europe ancestry

C282Y mutation is common

Question 5

Symptoms of Haemochromatosis

Answer 5

Early: 
Asymptomatic 
OR 
Tenderness 
Arthralgia (2nd/3rd MCP joint) 
Reduced libido 
Weakness, fatigue, lethargy 

Later:
Slate grey skin pigment/tan
Liver disease symptoms 
Heart failure 
Cardiomyopathies
"bronze diabetes" Hypogonadism (testicular atrophy, loss go hair, gynaecomastia, amenorrhoea)

Question 6

Signs of Haemochromatosis on examination

Answer 6

CLD signs (palmar erythema, Dupuytren's, leuconychia, bruising, gynaecomastia, spider naevi)
Diabetes ("bronze DM"
Hepatosplenomegaly 
Cirrhosis
Heart failure signs 
Arrhythmias

Question 7

Investigations for Haemochromatosis

Answer 7

Liver biopsy: Perl’s stain/Prussian blue stain quantifies iron loading

Iron studies: raised iron, transferrin, ferritin, reduced TIBC
LFTs: deranged
Fasting blood glucose: test for DM
Pituitary function: hypogonadism (reduced testosterone, FSH and LH)

Liver and cardiac MRI: iron overload
X-ray: linear calcification (chrondocalcinosis)

HFE mutation analysis: C282Y mutation