Haemochromatosis

• What sex is haemochromatosis more common in?

  Males
• What type of genetic inheritance is haemochromatosis?

  Autosomal recessive
• What is haemochromatosis?

  Iron storage disorders -> iron deposits in multiple organs = oxidative damage
• What is primary haemochromatosis?

  Due to mutations in the HFE gene
• What is secondary haemochromatosis?

  Iron overload from anything other than genetic inheritance
• What is the classic haemochromatosis presentation?

  Bronze skin
• What are some early clinical manifestations of haemochromatosis?

  Fatigue

  Arthralgia

  Impaired sexual function

  Abdo pain

  Mood changes
• What are some later clinical manifestations of haemochromatosis?

  Bronze skin

  Hepatomegaly

  Diabetes

  Cardiomyopathy

  Arthropathy

  Hypogonadism
• What is the likely cause of elevated serum ferritin and elevated transferrin saturation?

  Hereditary haemochromatosis
• What is a condition that can cause hypogonadotropic hypogonadism?

  Haemochromatosis