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Haemachromatosis (Diagnosis (History (PMH Known medical conditons, …
Haemachromatosis
Diagnosis
Examination
Musc exam
Arthralgia
Derm exam
Grey tinge skin
Cardio exam
Displaced apex, oedema, bibasal crackles
Abdo exam
Hepatomegaly
Investigations
Bloods
FBC, CRP, U+E, LFT, clotting,
Fe studies (high Fe, low TIBC, high ferritin)
Cu studies (rule out Wilson's)
Genetic studies (confirm HC)
ELF tests (fibrosis)
Imaging
USS abdo (fibrosisi)
Fibroscan
ECHO (heart involvement)
Bedside
Obs (nil)
ECG (arrhythmias)
Biopsy
DIAGNOSTIC
(Fe loading, fibrosis)
History
PMH
Known medical conditons,
previous surgeries
DH
Meds, allergies
PC/HPC
Signs of CLD, DM, CCF,
hypopituitarism, arthralgia
FH
HC, other metabolic disease
SH
Living arrangements, occupation,
smoking, alcohol, diet
Management
Medical
Venesection
Indication: all patients
MOA: remove 500mL blood 2x/wk,
then 3-4x/yr
Fe chelation
Indication: venesection not tolerated
E.g. desferrioxamine IV 3/wk
Surgical
Liver transplant
End stage disease
Conservative
Information, advice, support
Genetic counselling
Monitoring (USS, AFP for HCC)
Clinical
presentation
Grey skin pigmentation
Signs of CLD, DM, CCF,
pituitary disease, arthralgia
Asymptomatic
Epidemiology
Uncommon (1/300)
Often apparent in middle age
Pathophysiology
Primary
AR mutation in HFE gene involved in Fe absorption
Increased intestinal Fe absorption and deposition in joints, liver, heart, pancreas, adrenals, pituitary, skin
Leads to fibrosis and organ failure
Secondary
Fe overload following repleat blood transfusions e.g. thalassemia
Definition
Hereditary metabolic disorder
of iron metabolism resulting
in iron overload in body tissues