haemochromatosis Flashcards
1
Q
what
A
iron storage disorder
excessive total body iron and deposition in tissues
2
Q
human haemachromatosis protein
A
located on chromosome 6
majority cases of haemachromatosis relate to mutations of this gene
3
Q
inheritance
A
autosomal recessive
4
Q
when does it usually present
A
after 40yrs when iron overload becomes symptomatic
presents later in females due to menstruation
5
Q
presentation
A
chronic tiredness joint pain bronze pigmentation hair loss erectile dysfunction amenorrhoea memory + mood disturbance
6
Q
diagnosis
A
serum ferritin genetic testing liver biopsy CT abdo MRI
7
Q
transferrin saturation
A
since ferritin is an acute phase reactant it goes up with inflammation
performing transferring saturation can help distinguish high ferritin due to iron overload (TS will be high) compared to inflammatory cause
8
Q
complications
A
T1DM liver cirrhosis cardiomyopathy hepatocellular carcinoma hypothyroidism chrondrocalcinsis Fe deposits in pituitary and gonads: impotence, amenorrhoea
9
Q
Mx
A
venesection (weekly( serum ferritin monitoring avoid alcohol genetic counselling monitor and treat complications
