Station 1.2: Haemochromatosis

Question 1

Clinical Signs

What are the clinical signs of Haemochromatosis?

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.

Answer 1

*  Increased skin pigmentation (slate‐grey colour)
*  Stigmata of chronic liver disease
*  Hepatomegaly

Question 2

Clinical Signs

What clinical scars are indicative of Haemochromatosis?

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.

Answer 2

*  Venesection
*  Liver biopsy
*  Joint replacement
*  Abdominal rooftop incision (hemihepatectomy for hepatocellular carcinoma)

Question 3

Clinical Signs

What are Evidence of complications?

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.

Answer 3

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

Question 4

Discussion

Explain the Inheritance?

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.

Answer 4

*  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

Question 5

Discussion

Explain the presentation?

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.

Answer 5

*  Fatigue and arthritis
*  Chronic liver disease
*  Incidental diagnosis or family screening

Question 6

Discussion

Explain the investigation?

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.

Answer 6

*  ↑ 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)

Question 7

Discussion

Explain the Treatment?

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.

Answer 7

*  Regular venesection (1 unit/week) until iron deficient, then venesect 1 unit, 3–4 times/
year
*  Avoid alcohol
*  Surveillance for HCC

Question 8

Discussion

Family screening (1st degree relatives aged > 20 years)?

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.

Answer 8

*  Iron studies (ferritin and TSAT)
If positive:
*  Liver biopsy
*  Genotype analysis

Question 9

Discussion

Explain the Prognosis?

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.

Answer 9

*  200 × increased risk of HCC if cirrhotic
*  Reduced life expectancy if cirrhotic
*  Normal life expectancy without cirrhosis + effective treatment