Haemochromatosis
Description
- AR iron-overload disorder - inappropriately low hepcidin -> unregulated intestinal iron absorption -> parenchymal iron deposition
- Classic triad (late disease): skin pigmentation ("bronze diabetes") + cirrhosis + diabetes
- The triad is now uncommon - most present with fatigue, arthralgia or abnormal LFTs
Organ involvement
- Liver - hepatomegaly, fibrosis, cirrhosis, HCC
- Joints - arthropathy, 2nd and 3rd MCPJs and wrists, chondrocalcinosis
- Heart - dilated cardiomyopathy, arrhythmia, restrictive physiology
- Endocrine - diabetes; hypogonadotrophic hypogonadism (pituitary iron), hypothyroidism
- Skin - slate-grey/bronze pigmentation (melanin + iron)
- Fatigue, weakness - the commonest and least specific presentation
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