Hereditary Haemochromatosis Flashcards
What is haemochromatosis?
Genetic disorder of iron absorption and metabolism resulting in iron accumulation
What is the inheritance pattern?
Autosomal recessive
What are risk factors for haemochromatosis?
Middle age Male White Fhx Supplemental iron
What are the symptoms of haemochromatosis?
Tiredness Lethargy Arthralgias Hepatomegaly Diabetes mellitus Impotence Skin pigmentation
What are reversible complications of haemochromatosis?
Cardiomyopathy
Skin pigmentation
What are irreversible complications of haemochromatosis?
Liver cirrhosis
Diabetes mellitus
Hypogonadotrophic hypogonadism
Arthropathy
What are investigations for suspected haemochromatosis?
Serum transferrin - increased
Serum ferritin - raised
HFE mutation - C282Y gene
How is haemochromatosis staged?
Stage 0
- C282Y homozygosity
- normal serum transferrin
- normal serum ferritin
- no symptoms
Stage 1
- C282Y homozygosity
- increased transferrin
- normal ferritin
- no clinical symptoms
Stage 2
- C282Y homozygosity
- increased transferrin
- increased ferritin
- no symptoms
Stage 3
- C282Y homozygosity
- increased transferrin
- increased ferritin
- symptoms
Stage 4
- C282Y homozygosity
- increased transferrin
- increased ferritin
- symptoms suggesting organ damage
How is stage 0 haemochromatosis managed?
Observation
3 yearly follow up
Hep A + B vaccinations
How is stage 1 haemochromatosis managed?
Observation
1 yearly follow up
Hep A + B vaccinations
How is stage 2, 3 +4 haemochromatosis managed?
Phlebotomy
Hep A + B vaccinations
Iron chelation therapy
What agent can be used for iron chelation therapy?
Desferrioxamine
