Haemochromatosis Flashcards
Haemochromatosis is what kind of inheritance?
Autosomal recessive
What gene mutation on what chromosome is inherited?
HFE gene mutations on chromosome 6
What is the prevelance of haemochromatosis in people of European descent?
1 in 200
What are some presenting features of haemochromatosis?
- Early symptoms include fatigue, erectile dysfunction and arthralgia (often of the hands)
- ‘Bronze’ skin pigmentation
- Diabetes mellitus
- Liver: stigmata of chronic liver disease, hepatomegaly, cirrhosis, hepatocellular deposition)
- Cardiac failure (2nd to dilated cardiomyopathy)
- Hypogonadism (2nd to cirrhosis and pituitary dysfunction - hypogonadotrophic hypogonadism)
- Arthritis (especially of the hands)
What features of haemachromatosis are reversible with treatment?
- Cardiomyopathy
- Skin pigmentation
- Transaminitis and hepatomegaly are reversible.
What features of haemachromatosis are not reversible with treatment?
- Liver cirrhosis
- Diabetes mellitus
- Hypogonadotrophic hypogonadism
- Arthropathy
When screening family members, what is the best investigation to do?
Genetic testing for the HFE mutation
What screening test is the best to do for members of the general population?
Transferrin saturation.
(Ferritin can also be measured but is not ususually raised in the early stages of iron accumulation)
Transferrin > Ferritin
What are the diagnostic tests for Haemochromatosis?
- Molecular genetic testing for the C282Y and H63D mutations
- Liver biopsy: Perl’s stain
What does the typical Iron studies blood test show in a patient with Haemochromatosis?
- Transferrin saturation > 55% in men or > 50% in women
- Raised ferritin (e.g. > 500 ug/l) and iron
- Low TIBC
What do joint x-rays classically show?
Chondrocalcinosis
When monitoring to see if treatment with venesection is adequate, what do you want the transferrin saturation to be below and what do you want the ferritin concentration to be below?
- Transferrin
- Serum ferritin
