Haemochromatosis Flashcards
What is haemochromatosis?
An iron storage disorder characterized by iron deposits in multiple organs including liver, skin, pituitary, heart, and pancreas.
What is the most common genetic condition in the UK?
Haemochromatosis
What mutation is associated with decreased hepcidin activity in haemochromatosis?
HFE mutation on chromosome 6
List the early manifestations of haemochromatosis.
- Fatigue
- Arthralgia
- Impaired sexual function
- Abdominal pain
- Mood disturbances
What is the genetic inheritance pattern of primary haemochromatosis?
Autosomal recessive mutation
What are the later manifestations of haemochromatosis?
- Skin hyperpigmentation
- Hepatomegaly and cirrhosis
- Diabetes mellitus
- Cardiomyopathy
- Arthropathy
- Hypogonadism
What is the typical serum ferritin level in haemochromatosis?
Raised
What is the transferrin saturation percentage that indicates haemochromatosis?
> 45%
What are some recommended investigations for haemochromatosis?
- Serum ferritin
- Transferrin saturation
- LFTs
- FBC
What lifestyle changes are advised for patients with haemochromatosis?
- Avoiding iron and iron-containing supplements
- Avoiding vitamin C supplements
- Limit or avoid alcohol
What is the primary treatment for haemochromatosis?
Phlebotomy/venesection
What condition contraindicates phlebotomy in haemochromatosis management?
Anaemia or cardiac disease
Fill in the blank: The term for diabetes associated with haemochromatosis is _______.
Bronze diabetes
What can cause secondary haemochromatosis?
- Frequent blood transfusions
- Over supplementation with iron
- Diseases of erythropoiesis
True or False: Haemochromatosis is only present in white populations.
True
What type of heart condition can arise from iron deposition in haemochromatosis?
Cardiomyopathy
What are the hormonal assessments recommended for complications of haemochromatosis?
- Testosterone
- FSH
- LH
What is the role of hepcidin in iron metabolism?
Regulates iron storage
What condition is characterized by joint pain in haemochromatosis?
Arthralgia
What is the significance of the ‘iron fist’ sign?
It indicates arthritis in the second and third metacarpophalangeals due to haemochromatosis.
