Haemochromatosis Flashcards
Define haemochromatosis. What are the common affected organ and the effect on those organs?
Definition:
Inherited disorder of Fe (iron) metabolism and ↑ Fe absorption, leading to organ deposition:
Liver → Cirrhosis, HCC (Hepatocellular Carcinoma)
Pancreas → Diabetes
Which gender presents earlier and with more severe haemochromatosis? Why?
Men - Because women have protective factors such as menstruation and pregnancy, which reduce iron levels.
What is the prevalence of Haemochromatosis and carriers.
1 in 80
1 in 8 carriers
What are the RFs for developing haemochromatosis?
What is the role of hepcidin in haemochromatosis?
Hepcidin is reduced, leading to uncontrolled Fe absorption and increased iron deposition in tissues.
Describe the pathophysiology of haemochromatosis.
List the DDX for haemochromatosis.
What are the common S+S of haemochromatosis?
What S+S suggest liver dysfunction.
What S+S suggest portal HTN?
What exam findings would you expect in haemochromatosis?
In haemochromatosis, iron can deposit into the bones. How can this be detected?
What are the diagnostic investigations for haemochromatosis? Justify each.
What are the supportive investigations for haemochromatosis? Justify each.
same as CLD
Describe the prevention and lifestyle management of haemochromatosis.
Describe the pharmacological and surgical management of haemochromatosis. (not acute)
Describe the acute management of haemochromatosis.
Describe the complications of haemochromatosis.
Describe the relationship between cirrhosis and diabetes in terms if relative mortality risk.
