(Cardiovascular) (Gastrointestinal)

Overview

• Autosomal Recessive disorder of iron absorption and metabolism resulting in iron accumulation
• M>F, Age of onset >40 yrs old
• Primary Haemochromatosis → hereditary, most common form. Autosomal recessive inheritence. Mutations on the HFE gene.
• Secondary Haemochromatosis → caused by iron overload. Commonly transfusion related.

Making Diagnosis

Clinical Features:

• 75% of cases are asymptomatic
• Fatigue + Lethargy
• Arthralgia (often of the hands) → joint pain
• Signs of Diabetes → polyuria, polydipsia, bronze skin pigmentation
• Erectile Dysfunction
  • Loss of libido → due to hypogonadism
• Liver → cirrhosis, hepatomegaly
• Cardiac Failure

<aside> 💡 TRIAD → fatigue, arthralgia (joint pain) and erectile dysfunction. Also tanning (bronze pigmentation).

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