Haemochromatosis

Question 1

What is haemochromatosis?

Answer 1

Increased dietary iron absorption in gut and increased iron release by macrophages

Question 2

What is the aetiology of haemochromatosis?

Answer 2

Autosomal recessive – HFE gene – effect C282Y + H63D - +/- hepcidin mutation

Four main types - HEREDITARY
Type 1 = classical haemochromatosis = HFE mutation
Type 2 = juvenile haemochromatosis
2A = HJV mutation
2B = HAMP mutation
Type 3 = tfR2 mutation
Type 4 = ferroportin mutation

SECONDARY
Multiple blood transfusions
Severe chronic haemolysis

Iron deposits in liver, pancreas and pituitary (+ joints, heart, adrenals, gonads)

Question 3

What are the risk factors for haemochromatosis?

Answer 3

FHx
Male
Middle aged
High dietary iron intake
White

Epidemiology - Presents middle aged

Question 4

What are the signs and symptoms of haemochromatosis?

Answer 4

Triad: bronze skin, hepatomegaly, DM

General
Malaise, lethargy
Liver -> fibrosis
Hepatomegaly
RUQ pain
Pruritis
Malaise
Lethargy
Weakness

Pancreas
T1DM

Pituitary
Tanned/bronzed skin
Impotence
Low libido

Joints
Arthralgia

Heart
Heart failure
Pericarditis
Arrhythmia

Brain
Memory loss
Vertigo

Genital
Impotence
Testicular atrophy

Question 5

What are the investigations for haemochromatosis?

Answer 5

Bloods

Haematinics
Iron: HIGH
Ferritin: HIGH
Transferrin: LOW
Transferrin saturation: HIGH - >45%
TIBC: LOW

LFTs: raised (but not > x2 normal)

Other investigations
HFE mutation analysis
Liver biopsy – MOST SENSITIVE AND SPECIFIC (for iron in liver)
Fasting blood sugar - T1DM
ECG + ECHO - Complications = cardiomyopathy + arrhythmias
Hormones - FSH, LH, testosterone, bone densitometry