Haematochromatosis

Question 1

Define Haemochromatosis

Answer 1

Genetic, AR disorder
multisystem disorder of iron absorb and iron released from macrophage
variable penetrance
want to manage iron overload and prevent complications

Question 2

Aetiology and risk factors of Haemochromatosis

Answer 2

several causative mutations
usually iron stock sensing mechanism go wrong-always thinks its empty
=> ongoing absorption + macrophage release iron = overload
Clinical manifestations come with iron oxidative properties-damage organ (liver fibrosis), pancreatic damage, etc

heriditary is HFE genotype-90% of cases
Juvenile Haemochromatosis-many small mutations-present younger

Risk factors: 
Type 1- middle age
male
white ancestry
FHx
taking iron supplements

Question 3

Epidiemology of Haemochromatosis

Answer 3

TYPE 1-HFE Gene is quite prevalent in Northern European/caucasian populations -1:10 carry-but penetrance varies a LOT-seems higher In men
about 1:200 homozygous
Type 2-4 are worldwide

Question 4

Signs and Sx of Haemochromatosis

Answer 4

Non specific-
lethargy, weakness, fatigue

Arthralgia
Hepatomegaly (with cirrhosis
Diabetes miellitus (pancreas damage)
Loss of libido/erection-hypogonadism very associated
generalised bronzing of skin

rarer-CCF, arrtyhmias (AF)

Question 5

Investigations of Haemochromatosis

Answer 5

2 main ones-
serum transferrin saturation over 45% (first signs)
Serum transferrin over 674

then its mainly genetic testing and investigating the damaged tissues (LFT’s high, MRI-fibrosis)
Hba1c,
ECG
Testosterone/FSH/LH