Haemochromatosis Flashcards
what inheritance pattern does haemochromatosis follow
autosomal recessive
what is haemochromatosis
an autosomal recessive inherited condition in which excessive intestinal iron absorption causes iron accumulation in body tissues, eventually causing organ damage
why is there iron accumulation in tissues
increased absorption from the intestines
increased iron release by macrophages
aetiology/ causes of haemochromatosis
autosomal recessive, defect in the HFE gene
will everyone that is homozygous recessive have haemochromatosis
no… the inheritance pattern is complex
epidemiology; is haemochromatosis common?
its rare
do people present straight away with symptoms
no, symptoms usually show in later stages of dais (around 40-60yrs)
some EARLY signs and symptoms
fatigue, weakness, lethargy, arthralgias (chronic arthropathy and pseudo gout), erectile dysfunction and loss of libido
some LATER signs and symptoms
diabetes mellitus, bronzed skin, hepatomegaly, amenorrhoea, hypogonadism, cirrhosis
FIRST LINE investigations for the diagnosis of haemochromatosis
serum transferrin (LOW)
serum ferritin (HIGH)
serum transferrin saturation (HIGH)
what tests can be done to rule out other causes of high ferritin
CRP (inflammation)
ALT
Chronic alcohol consumption
what tests may be done on a patient with suspected haemochromatosis
genetic testing, LFTs, biopsy of the liver, hepatitis serology
managing haemochromatosis depends on stages. what are the stages
stage 0 (asymptomatic)
stage 1 (early stage)
stage 2,3,4 (later stages)
management of stage 0
observation and 3 year follow up; offer Hep A and B vaccinations as a preventative measure
what are lifestyle modifications for any haemochromatosis patient
avoid all iron supplementation and iron rich foods
management of stage 1
observation and yearly follow up; Hep A and B vaccinations
management of stage 2,3,4
phlebotomy
iron chelation therapy
PLUS LIFESTYLE MODIFICATIONS AND HEP A AND B VACCINATIONS
prognosis
complications of cirrhosis, hepatocellular cancer, diabetes, cardiac disease are possible which give a poor prognosis
