FN: Hereditary Haemochromatosis Flashcards Preview

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Flashcards in FN: Hereditary Haemochromatosis Deck (14):
1

Epidemiology

􏰀 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)

2

Pathophysiology

􏰀 Inherited, multisystem disorder resulting from abnormal iron metabolism.
􏰀 ↑ intestinal Fe absorption (↑ enterocyte DMT + ↓ hepatocyte hepcidin) → deposition in multiple organs.

3

Clinical features Way to remember

iron MEALS

4

M

Myocardial
􏰀 Dilated cardiomyopathy 􏰀 Arrhythmias

5

E

Endocrine
􏰀 Pancreas: DM
􏰀 Pituitary: hypogonadism → amenorrhoea, infertility
􏰀 Parathyroid: hypocalcaemia, osteoporosis

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A

Arthritis
􏰀 2nd and 3rd MCP joints, knees and shoulders

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L

Liver
􏰀 Chronic liver disease → cirrhosis → HCC
􏰀 Hepatomegaly

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S

Skin
Slate grey discolouration

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Ix

􏰀 Bloods: ↑LFT, ↑ ferritin, ↑Fe, ↓TIBC, glucose, genotype
􏰀 X-ray: chondrocalcinosis
􏰀 ECG, ECHO
􏰀 Liver biopsy: Pearl’s stain to quantify Fe and severity
􏰀 MRI: can estimate iron loading

10

Rx

Iron removal
General
Screening

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Iron removal

􏰁 Venesection: aim for Hct <0.5
􏰁 Desferrioxamine is 2nd line

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General Mx

􏰁 Monitor DM
􏰁 Low Fe diet

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Screening

􏰁 Se ferritin and genotype
􏰁 Screen 1st degree relatives
􏰀 Transplant in cirrhosis

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Prognosis

􏰀 Venesection returns life expectancy to normal if non- cirrhotic and non-diabetic.
􏰀 Cirrhotic patients have >10% chance of HCC

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