Haemochromatosis - Quick Case Discussion

Haemochromatosis
This 52‐year‐old man was referred after a diagnosis of diabetes mellitus was made by his GP. Please
examine him and discuss further investigations.

Clinical signs
• Increased skin pigmentation (slate‐grey colour)
• Stigmata of chronic liver disease
• Hepatomegaly

Scars of
• Venesection
• Liver biopsy
• Joint replacement
• Abdominal rooftop incision (hemihepatectomy for hepatocellular carcinoma)

Evidence of complications
• Endocrine: ‘bronze diabetes’ (e.g. injection sites), hypogonadism and testicular atrophy
• Cardiac: congestive cardiac failure
• Joints: arthropathy (pseudo‐gout)

Discussion


Inheritance
• Autosomal recessive on chromosome 6
• HFE gene mutation: regulator of gut iron absorption
• Homozygous prevalence 1:300, carrier rate 1:10
• Males affected at an earlier age than females – protected by menstrual iron losses

Presentation
• Fatigue and arthritis
• Chronic liver disease
• Incidental diagnosis or family screening

Investigation
• ↑ Serum ferritin
• ↑ Transferrin saturation
• Liver biopsy (diagnosis + staging)
• Genotyping
And consider:
• Blood glucose Diabetes
• ECG, CXR, ECHO Cardiac failure
• Liver ultrasound, α‐fetoprotein Hepatocellular carcinoma (HCC)

Treatment
• Regular venesection (1 unit/week) until iron deficient, then venesect 1 unit, 3–4 times/ year
• Avoid alcohol
• Surveillance for hepatocellular carcinoma

Family screening (1st degree relatives aged > 20 years)
• Iron studies (ferritin and TSAT)
If positive:
• Liver biopsy
• Genotype analysis

Prognosis
• 200 × increased risk of Heptocellular carcinoma if cirrhotic
• Reduced life expectancy if cirrhotic
• Normal life expectancy without cirrhosis + effective treatment