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Haemochromatosis

Definition
  • Haemochromatosis: A hereditary condition causing increased iron absorption leading to iron overload in the body.
Etiology/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.
Pathophysiology
  • Increased intestinal absorption of dietary iron.
  • Iron accumulates in organs causing tissue damage and organ dysfunction.
Clinical Features
  • Often asymptomatic in early stages.
  • Iron accumulation symptoms: Fatigue, joint pain, abdominal pain, decreased libido.
  • Organ damage symptoms: Liver disease (cirrhosis, hepatomegaly, liver cancer), cardiomyopathy, diabetes mellitus, skin bronzing.
Investigations
  • Blood tests: Serum ferritin, transferrin saturation, iron levels.
  • Genetic testing for HFE mutations.
  • Liver function tests.
  • Liver biopsy in selected cases.
  • MRI for iron quantification.
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
  • With early diagnosis and treatment, normal life expectancy.
  • Progression to cirrhosis increases risk of hepatocellular carcinoma.

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