Haemochromatosis Flashcards
What is haemochromatosis?
Haemochromatosis is an autosomal recessive genetic condition that results in iron overload in the body, with excess iron depositing in tissues and organs.
What gene is associated with haemochromatosis?
The HFE gene located on chromosome 6 is associated with haemochromatosis. The majority of cases are related to C282Y mutations in this gene.
What type of genetic condition is haemochromatosis?
It is an autosomal recessive condition, requiring mutations in both copies of the gene (homozygous).
How does haemochromatosis typically present?
Haemochromatosis often presents after age 40, especially in men. Symptoms include:
* Chronic tiredness
* Joint pain
* Bronze skin pigmentation
* Testicular atrophy
* Erectile dysfunction
* Amenorrhoea
* Cognitive symptoms
* Hepatomegaly
What is the initial investigation for diagnosing haemochromatosis?
Serum ferritin is the initial investigation.
What can cause elevated ferritin levels besides haemochromatosis?
Elevated ferritin can also be caused by:
* Infections
* Alcohol
* Fatty liver disease
* Hepatitis C
* Cancer
What is used to distinguish between iron overload and other causes of raised ferritin?
Transferrin saturation is used to distinguish between iron overload (high transferrin saturation) and other causes (normal transferrin saturation).
What confirms the diagnosis of haemochromatosis?
Genetic testing for mutations in the HFE gene confirms the diagnosis when serum ferritin and transferrin saturation are high.
What may be used to confirm iron concentration in the liver?
Liver biopsy with Perl’s stain may be used to confirm iron concentration in the liver.
What non-invasive method can assess liver iron concentration?
MRI can assess liver iron concentration non-invasively.
What are the complications of haemochromatosis?
Complications include:
* Secondary diabetes
* Liver cirrhosis
* Endocrine and sexual problems
* Cardiomyopathy
* Hepatocellular carcinoma
* Hypothyroidism
* Chondrocalcinosis
How is haemochromatosis primarily managed?
Venesection (removal of blood) is the primary treatment to remove excess iron.
What is the frequency of venesection treatment in haemochromatosis management?
Initially, venesection may be done weekly.
What should be monitored in haemochromatosis management?
Monitoring serum ferritin to assess iron levels and treating complications.
