Haemochromatosis Flashcards
What are the clinical signs of haemochromatosis?
Increased skin pigmentation (slate grey colour)
Stigmata of chronic liver disease
Hepatomegaly
What scars indicate haemochromatosis?
Venesection
Liver biopsy
Joint replacement
Abdominal rooftop incision (hemihepatectomy for hepatocellular carcinoma)
What evidence of complications can be found in haemochromatosis?
Endocrine: -bronzed diabetic (injection sites), hypogonadism and testicular atrophy Cardiac: -CCF Joints: - arthropathy (pseudogout)
Inheritance of haemochromatosis:
- How is this inherited?
- Which chromosome?
- What is the genetic mutation?
- Autosomal recessive on chromosome 6
- HFE gene mutation: regulator of gut iron absorption
What is the prevalence of haemochromatosis?
-Homozygous prevalence 1:300, carrier 1:10
How does haemochromatosis affect males vs females?
Males affected at an earlier age than females - protected by menstrual iron losses
What is the presentation of haemochromatosis?
- Fatigue and arthritis
- Chronic liver disease
- Incidental diagnosis or family screening
What investigations are found in haemochromatosis?
- increassed serum ferritin
- inceased transferrin saturation
- liver biopsy (diagnosis and staging)
- genotyping
Blood sugar - diabetes
ECG/CXR/Echo - Cardiac failure
Liver US/AFP - HCC
What is the treatment for haemochromatosis?
- Regular venesection 1unit/wk until iron deficient then venesect 1 unit 3-4 times/yr
- Avoid alcohol
- HCC surveillance
What happens in terms of family screening for haemochromatosis?
1st degree relatives >20yrs
-Iron studies (ferritin and TSAT) then Liver biopsy and genotype analysis if positive
What is the prognosis of haemochromatosis?
- 200X increased risk HCC if cirrhotic
- Reduced life expectancy if cirrhotic
- if no cirrhosis and effective treatment, normal life expectancy
