FN: Hereditary Haemochromatosis

Question 1

Epidemiology

Answer 1

􏰀 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)

Question 2

Pathophysiology

Answer 2

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

Question 3

Clinical features Way to remember

Answer 3

iron MEALS

Question 4

M

Answer 4

Myocardial

􏰀 Dilated cardiomyopathy 􏰀 Arrhythmias

Question 5

E

Answer 5

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

Question 6

A

Answer 6

Arthritis

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

Question 7

L

Answer 7

Liver
􏰀 Chronic liver disease → cirrhosis → HCC
􏰀 Hepatomegaly

Question 8

S

Answer 8

Skin

Slate grey discolouration

Question 9

Ix

Answer 9

􏰀 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

Question 10

Rx

Answer 10

Iron removal
General
Screening

Question 11

Iron removal

Answer 11

􏰁 Venesection: aim for Hct <0.5

􏰁 Desferrioxamine is 2nd line

Question 12

General Mx

Answer 12

􏰁 Monitor DM

􏰁 Low Fe diet

Question 13

Screening

Answer 13

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

Question 14

Prognosis

Answer 14

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