Haemochromatosis

Question 1

What are the clinical features of haemochromatosis? (9)

Answer 1

1. Slate-grey colour - increased pigmentation
2. Signs of chronic liver disease
3. Hepatomegaly
4. Scars from venesection e.g. in ACF
5. Scars from liver biopsy
6. Joint replacement and pain
7. Abdominal roof scar - hemihepatectomy for hepatocellular carcinoma
8. Signs of diabetes - finger tip pricks, insulin injection
9. Signs of heart failure

Hx of sexual dysfunction

Question 2

What is the genetic cause of haemochromatosis?

Answer 2

Autosomal Recessive HFE gene mutation on short arm Chromosome 6 (but can have different mutations)

HFE codes for refulator of gut iron absorption

Males affected younger due to not mensturating

1:300 homozygous

Question 3

What are the investigations for haemochromatosis? (9)

Answer 3

Investigation and 1st degree relative screening:
1. Raised serum ferritin (>300 males >200 females)
2. Raised transferrin saturation (>50% males >40% females)
3. Genotyping

Investigating for complications:
5. Blood/urine glucose and HbA1c for diabetes
6. ECG, BNP, ECHO for cardiac failure
7. Liver USS and AFP for hepatocellular carcinoma
8. If ferritin >1000 -> HPB ?elastography ?biopsy
9. X-rays particularly of MCP joints - chondrocalcination, squaring off of bones and hook like osteophytes

Question 4

How is haemochromatosis managed?

Answer 4

1 unit of venesection for 1 week until iron deficient (6-12 months) then 4 times per year (can just give blood)

HCC, cardiomyopathy and diabeteces surveillance and treatment
Avoid alcohol

Question 5

What is the prognosis for haemochromatosis?

Answer 5

Normal if treated and not cirrhotic
x200 increased risk of HCC if cirrhotic