DR Medhat MRCP

• Diagnostic tests :
Molecular genetic testing for the C282Y and H63D mutations.
liver biopsy: Perl's stain - Presence of iron in hepatocytes + cirrhosis.
- Done if any evidence of liver damage e.g ↑ ALT
Typical iron study profile in patient with haemochromatosis
1) Transferrin saturation > 55% in men or > 50% in women.
2) Raised ferritin (e.g. > 500 ug/l) and iron.
3) low TIBC
Joint x-rays characteristically show chondrocalcinosis.
• Clinical picture (=complications) :
Early symptoms : easy fatigability ,erectile dysfunction, arthralgia (usually hands)
Complications.
Reversible complications
Cardiomyopathy (HF)
Skin pigmentation( Bronz).
Irreversible complications
Liver cirrhosis
Diabetes mellitus
Hypogonadotrophic hypogonadism
Arthropathy
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