
Pre PACES Podcast #133 Haemochromatosis
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Feb 15, 2026 Dr Jeremy Shearman, consultant gastroenterologist and hepatologist and national authority on haemochromatosis. They cover iron overload basics, genetics and who to test. Practical talk on interpreting ferritin and transferrin saturation, imaging and venesection management. Discussion of multisystem effects like liver, joints and cardiac risks, plus exam-focused signs and investigation strategies.
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Clinical Presentation Has Shifted Over Time
- Modern haemochromatosis often presents differently than historic textbook descriptions.
- Besides the liver, patients commonly report arthralgia and have emerging links to CNS disorders in C282Y males.
Characteristic Joint Pattern: 2nd–3rd MCPs
- Haemochromatosis arthropathy often affects the 2nd and 3rd MCPs and weight-bearing joints like hips, knees, and ankles.
- The MCP involvement causes reduced flexion and can produce the classic 'iron fist' appearance.
Be Surgical With Exam Narrative And Targets
- During the exam talk through your examination and show what you're looking for to the patient and examiners.
- Prioritise hands, head/neck, and abdomen quickly to reach the 'money' signs like hepatosplenomegaly.
