Haemochromatosis

Question 1

Haemochromatosis: definition
1. Inheritance pattern

Answer 1

Disorder of iron metabolism, where excessive iron accumulates in the body and is deposited in a number of sites, including the liver, heart, joints, pituitary, pancreas, and skin.
1. autosomal recessive

Question 2

Haemochromatosis: pathophysiology

Answer 2

homozygosity for HFE C282Y (autosomal recessive)

Question 3

Complications of Haemochromatosis

Answer 3

• Liver fibrosis
• Cirrhosis
• Hepatocellular carcinoma
• Severe myocardial siderosis leading to cardiac dysfunction (which may manifest as dyspnoea, orthopnoea, or arrhythmia that often improves after iron depletion)
• Diabetes mellitus (often unchanged by phlebotomy therapy, although some patients report improvement in blood glucose management)
• Skin hyperpigmentation (often decreases after phlebotomy)
• Arthropathy

Question 4

Haemochromatosis: features

Answer 4

Bronze skin while usually asymptomatic or vague symptoms of FATIGUE and JOINT PAIN

• Type 2 diabetes mellitus
• Liver cirrhosis
• Adrenal insufficiency
• cardiac failure (2nd to dilated cardiomyopathy)
• hypogonadism (2nd to cirrhosis and pituitary dysfunction - hypogonadotrophic hypogonadism)

Question 5

Haemochromatosis: investigations
Blood tests in these patients show:
- Deranged LFTs
- Raised serum […]
- Raised transferrin […]

Genetic testing can reveal […] gene defects

MRI imaging of the brain and heart may show evidence of iron deposition

Liver biopsy will show increased iron stores

Answer 5

ferritin
saturation

HFE

Question 6

Haemochromatosis: management

Answer 6

iron depletion to normalize body iron stores + prevent or decrease iron-mediated tissue injury and organ dysfunction.

1st line –> phlebotomy/venesection –> stimulates erythropoiesis and mobilizes iron from parenchymal cells and other storage sites

Alternative –> desferrioxamine, a iron chelating agent

Question 7

Which complications of haemochromatosis are
1. reversible with treatment
2. Irreversible with treatment

Answer 7

1. Cardiomyopathy
   Skin pigmentation
2. Liver cirrhosis**
   Diabetes mellitus
   Hypogonadotrophic hypogonadism
   Arthropathy

**elevated liver function tests and hepatomegaly may be reversible, cirrhosis is not