Haemochromatosis Flashcards
(19 cards)
What can serum ferritin be used for?
Measurement of serum ferritin levels can be useful in determining whether an apparently low haemoglobin and microcytosis is truly caused by an iron deficiency state
How to test for iron overload?
High transferrin saturation
Causes of iron overload?
Repeated transfusions
Hereditary ahemoacromotsis
What can house high ferritin without iron overload?
Alcohol excess
Malignancy
CKD
Inflammation
What is a clinical feature of haemochromatosis characterized by a change in skin color?
‘bronze’ skin pigmentation
This pigmentation is due to excess iron deposition in the skin.
What metabolic disorder is associated with haemochromatosis?
diabetes mellitus
This condition is often referred to as ‘bronze diabetes’ due to the skin changes.
What liver-related symptoms are seen in haemochromatosis?
stigmata of chronic liver disease, hepatomegaly, cirrhosis, hepatocellular deposition
These symptoms indicate significant liver damage and dysfunction.
What cardiac condition can develop as a complication of haemochromatosis?
cardiac failure (2nd to dilated cardiomyopathy)
Iron overload can lead to heart muscle damage.
What reproductive disorder can occur due to haemochromatosis?
hypogonadism (2nd to cirrhosis and pituitary dysfunction - hypogonadotrophic hypogonadism)
This condition affects hormone production and reproductive function.
What type of joint issues are associated with haemochromatosis?
arthritis (especially of the hands)
This can lead to pain and decreased mobility.
What are reversible complications of haemochromatosis?
Cardiomyopathy, Skin pigmentation
These conditions can improve with treatment.
What is an irreversible complication of haemochromatosis?
Liver cirrhosis
Once cirrhosis develops, it is typically permanent.
Which condition is a complication of haemochromatosis that affects glucose metabolism?
Diabetes mellitus
This is often a result of pancreatic damage due to iron overload.
What type of hypogonadism is associated with haemochromatosis?
Hypogonadotrophic hypogonadism
This occurs due to damage to the pituitary gland or hypothalamus.
What condition affecting joints can result from haemochromatosis?
Arthropathy
This can involve pain and stiffness in various joints.
What is the first-line treatment for conditions requiring blood removal?
Venesection
Venesection is often used in conditions like hemochromatosis to reduce iron overload.
What transferrin saturation percentage should be maintained during venesection?
Below 50%
This level helps prevent complications related to iron overload.
What serum ferritin concentration should be kept below during venesection?
Below 50 ug/l
Maintaining this level is crucial for effective monitoring of iron status.
What is the second-line treatment option after venesection?
Desferrioxamine
Desferrioxamine is used to chelate excess iron when venesection is insufficient.
