Diagnostic pathway

Under discussion

 

Adapted from BMJ clinical review:  BMJ 22/1/2011 - 342: 179-236

Check ferritin and transferrin saturation

Ferritin within normal range

Ferritin above normal limit

Check*

  1. Inflammation ( check CRP)

  2. Iron loading anaemia

  3. Alcohol misuse

  4. Metabolic syndrome

  5. Cell necrosis

Transferrin > 45%

Transferrin < 45%

HFE genetic testing

Haemochromatosis does not explain current symptoms

Haemochromatosis does not explain current symptoms

Consider alternatives*

C282Y homozygosity of HFE gene

Absence of C282Y homozygosity of HFE gene

HFE Haemochromatosis

MRI Liver

Increased liver iron

Normal liver Iron

Ferritin > 1000 ug/L

Ferritin < 1000 ug/L

Liver biopsy

Phlebotomy until ferritin below upper limit of reference value
Screen 1st degree relatives
 Periodic screening  by ECHO or MRI for hepatocellular carcinoma

HFE Haemochromatosis

with cirrhosis

HFE Haemochromatosis

without  cirrhosis

Test rare mutations in HFE & non-HFE haemochromatosis gene

Secondary

Care