Haemochromatosis

Question 1

Define Haemochromatosis

Answer 1

Haemochromatosis is a multisystem disorder of dysregulated dietary iron absorption and increased iron release from macrophages

Question 2

Explain the aetiology/risk factors for Haemochromatosis

Answer 2

There are two main types:

• Primary (Autosomal Recessive) - MOST COMMON
• Secondary (e.g. transfusion-related)

Risk Factors:

• Hereditary mutation of HF6 protein
• Condition requiring chronic iron tranfusion
  
  • Sickle cell disease
  • B-thalassaemia
• High iron diet

Question 3

Epidemiology of Haemochromatosis

Answer 3

• Tends to present from 40-50 (Sx appear as Iron accumulates)
• Females present later (POST-MENOPAUSE) as their Fe is used up by by:
  
  • Menstruation
  • Pregnancy (infants have high Fe requirements)

Question 4

Presenting Symptoms

Answer 4

• Fatigue/Lethargy
• Arthralgia in 2nd & 3rd MCP (increased CPP deposition - pseudogout)
• Liver: Cirrhosis symptoms (Jaundice)
• Pancreas: Diabetes Mellitus
  
  • Polyuria & Polydipsia
• Pituitary deposition:
  
  • Impotence in males
  • Loss of libido
  • Amenorrhea

Question 5

Signs on physical examination

Answer 5

• Skin pigmentation (bronzing)
• Hepatomegaly
• Arrhythmias
• Kussmaul’s sign (Restrictive Cardiomyopathy)
• Signs of HF: Peripheral & Pulmonary Oedema

Question 6

Investigations

Answer 6

• Iron studies:
  
  • Ferritin: Raised
  • Transferrin Saturation: Increased
  • TIBC: Reduced
• LFTs: modestly raised ALT & AST
• Screening: for Hereditary haemochromatosis
  
  • Siblings of patients with hereditary haemochromatosis should undergo screening (ferritin & transferrin sats), since they have a 25% chance of being susceptible.

Question 7

Management

Answer 7

• 1st line: venesection/phlebotomy
  
  • This involves removing about a pint of blood at a time, on a regular schedule
• 2nd line: Iron chelation therapy (desferroxamine) ➔ not first line as too many side effects