Haemochromatosis Flashcards
What is haemochromatosis?
An autosomal dominant genetic condition, resulting in iron overload
What gene causes haemochromatosis?
The human haemochromotosis protein (HFE) gene, located on chromosome 6
What is the pathophysiology of haemochromatosis?
Unregulated absorption of iron from the gut results in iron overload - this is deposited in multiple tissues
Where is iron commonly deposited in haemochromatosis?
Liver
Pancreas
Heart
When does haemochromatosis usually present?
Usually presents after age 40
Can present later in females due to menstruation
What is the presentation of haemochromatosis?
Chronic tiredness
Joint pain
Pigmentation (bronze skin)
Testicular atrophy
Erectile dysfunction
Loss of libido
Amenorrhoea
Hepatomegaly
Memory and mood disturbance
What is the initial investigation for diagnosis of haemochromatosis?
Serum ferritin - raised
Serum transferrin saturation - raised
Serum iron - raised
What are the common causes of a raised ferritin?
Haemochromatosis
Infections
Chronic alcohol consumption
NAFLD
Hepatitis C
Cancer
What other blood tests may be deranged in haemochromatosis?
LFTs
HbA1c (due to damage to pancreatic beta cells)
FBC
What other investigations may be useful in diagnosis of haemochromatosis?
Genetic testing for mutations in HFE gene
Liver biopsy with Perl’s stain
MRI
What are the complications of haemochromatosis?
Secondary diabetes
Liver cirrhosis
Endocrine and sexual problems
Cardiomyopathy
HCC
Hypothyroidism
Chondrocalcinosis
What is the management of haemochromatosis?
Venesection - removing 500ml of blood weekly until serum ferritin levels are 20-30, and transferrin saturation <50%
