Flashcards in FN: Hereditary Haemochromatosis Deck (14):
Prevalence: 1/3000, 10% are carriers.
Age of onset: 40-60yrs (women later due to menses)
Genetics: AR, HFE gene (High FE) on Chr6 (C282Y)
Inherited, multisystem disorder resulting from abnormal iron metabolism.
↑ intestinal Fe absorption (↑ enterocyte DMT + ↓ hepatocyte hepcidin) → deposition in multiple organs.
Clinical features Way to remember
Dilated cardiomyopathy Arrhythmias
Pituitary: hypogonadism → amenorrhoea, infertility
Parathyroid: hypocalcaemia, osteoporosis
2nd and 3rd MCP joints, knees and shoulders
Chronic liver disease → cirrhosis → HCC
Slate grey discolouration
Bloods: ↑LFT, ↑ ferritin, ↑Fe, ↓TIBC, glucose, genotype
Liver biopsy: Pearl’s stain to quantify Fe and severity
MRI: can estimate iron loading
Venesection: aim for Hct <0.5
Desferrioxamine is 2nd line
Low Fe diet
Se ferritin and genotype
Screen 1st degree relatives
Transplant in cirrhosis