Haemochromatosis Flashcards
(15 cards)
What type of disorder is haemochromatosis?
AUTOSOMAL RECESSIVE disorder of iron absorption + metabolism, resulting in** iron accumulation.**
Haemochromatosis leads to excessive iron deposits in various organs.
What is the genetic cause of haemochromatosis?
HFE gene mutation on both copies of chromosome 6.
This mutation affects iron metabolism and absorption.
What are early symptoms of haemochromatosis?
- Fatigue
- Erectile dysfunction
- Arthralgia (hands)
Early recognition of symptoms is crucial for diagnosis.
What skin condition is associated with haemochromatosis?
‘Bronze’ skin pigmentation.
This pigmentation occurs due to iron deposits in the skin.
What liver conditions can result from haemochromatosis?
- Chronic liver disease
- Hepatomegaly
- Cirrhosis
These conditions can lead to severe liver dysfunction.
What cardiac condition can occur due to haemochromatosis?
Cardiac failure.
Iron overload can damage heart tissue, leading to heart failure.
What reproductive issue is associated with haemochromatosis?
Hypogonadism.
This can result in reduced testosterone levels and associated symptoms.
What joint condition may occur in patients with haemochromatosis?
Arthritis.
Iron accumulation can lead to joint pain and damage.
What is the most useful test for screening iron overload in the general population?
Transferrin saturation.
This test helps assess the amount of iron bound to transferrin in the blood.
What test is not usually raised in the early stages of haemochromatosis?
Ferritin.
Ferritin levels may not indicate iron overload until later stages.
What is the recommended genetic test for family members of haemochromatosis patients?
HFE mutation genetic test.
This test helps identify at-risk individuals among relatives.
What are further tests used for diagnosis of haemochromatosis?
- LFTs
- MRI - quantify liver/cardiac iron
- Liver biopsy - liver cirrhosis
These tests help assess the extent of damage caused by iron accumulation.
What is the first line treatment for haemochromatosis?
Venesection (blood letting).
This method reduces iron levels by removing blood.
What is the monitoring requirement for venesection treatment?
Transferrin saturation should be kept below 50% and serum ferritin concentration below 50 ug/l.
Monitoring these levels is essential to prevent complications.
What is the second line treatment for haemochromatosis?
Desferrioxamine (removes excess iron from blood).
This chelating agent helps to lower iron levels when venesection is insufficient.
