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Haemochromatosis

Background Knowledge 🧠

Definition

  • A hereditary condition causing increased iron absorption leading to iron overloadΒ in the body.

Pathophysiology

  • Increased intestinal absorption of dietary iron.

  • Iron accumulates in organs causing tissue damage and organ dysfunction.

Aetiology/Types

  • Hereditary haemochromatosis (HH): Most common type, autosomal recessive disorder. Mutations in the HFE gene are frequently seen, especially the C282Y mutation.

  • Secondary haemochromatosis: Due to repeated blood transfusions or certain anaemias.

  • Other genetic forms (less common): Caused by mutations in other genes besides HFE.

Clinical Features πŸŒ‘️

Symptoms

  • Often asymptomatic in early stages.

  • Iron accumulation symptoms: Fatigue, joint pain, abdominal pain, decreased libido.

Signs

  • Organ damage: Liver disease (cirrhosis, hepatomegaly, liver cancer), cardiomyopathy, diabetes mellitus, skin bronzing.

Investigations πŸ§ͺ

Initial tests

  • Blood tests: Serum ferritin, transferrin saturation, iron levels.

Diagnostic Tests

  • Genetic testing for HFE mutations.

  • Liver function tests.

  • Liver biopsy in selected cases.

  • MRI for iron quantification.

Management πŸ₯Ό

Management

  • Phlebotomy (venesection): Regular removal of blood to decrease iron levels; initial frequent sessions followed by maintenance.

  • Iron chelation therapy: Used if phlebotomy isn’t suitable; medications like deferoxamine or deferasirox bind to iron and facilitate its excretion.

  • Regular monitoring of iron levels and liver function.

  • Avoidance of iron supplements and vitamin C supplements (which increase iron absorption).

  • Liver cancer surveillance in those with cirrhosis.

Prognosis

  • Early diagnosis and treatment allows for a normal life expectancy.

  • Progression to cirrhosis increases risk of hepatocellular carcinoma.

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