Haemochromatosis Flashcards
What is haemochromatosis?
It is defined as a genetic condition, in which there is excessive total body iron and deposition of iron in tissues
What is the inheritance of haemochromatosis?
Autosomal recessive
Which genetic mutation is associated with haemochromatosis?
Human haemochromatosis protein (HFE) gene
What chromosome is the HFE gene located on?
Chromosome 6
What is the function of the HFE gene?
It is involved in regulating iron metabolism
What are the three early clincial features of haemochromatosis?
Fatigue
Hand Arthralgia
Erectile Dysfunction
What are the eleven clinical features of haemochromatosis?
Chronic Fatigue
Bronze Hyperpigmentation
Palmar Erythema
Arthritis
Arthralgia
Hair Loss
Hepatomegaly
Amenorrhoea
Erectile Dysfunction
Gynaecomastia
Diabetes Mellitus
Which joints are usually affected by arthralgia in haemochromatosis?
Hand joints
What four investigations are used to diagnose haemochromatosis?
Blood Tests
MRI Scan
Liver Biopsy
Genetic Testing
What four blood test results indicate haemochromatosis?
Increased Serum Iron Levels
Increased Serum Ferritin Levels > 500ug/l
Increased Transferrin Saturation Levels > 55% in men and > 50% in women
Decreased Total Iron Binding Capacity
What is the most useful blood test used to diagnose haemochromatosis? Why
Transferrin Saturation
This is due to the fact that ferritin is usually not abnormal in the early stages of iron accumulation
How are transferrin saturation levels used to investigate haemochromatosis?
It distinguishes between high ferritin caused by iron overload and high ferritin due other causes - such as inflammation or non-alcoholic fatty liver disease
What is the feature of haemochromatotis on MRI scans?
A non-specific increase in attenuation of the liver
What stain is used to identify haemochromatosis on a liver biopsy?
Perl’s stain
How is a liver biopsy used to investigate haemochromatosis?
It is used to establish the iron concentration within the parenchymal cells of the liver – which will be increased in haemochromatosis
What is the gold standard investigation used to diagnose haemochromatosis?
Genetic testing
How is genetic testing used to diagnose haemochromatosis?
It can be used to confirm the presence of a mutation affecting the HFE gene – which is responsible for the development of haemochromatosis
What is the first line management option of haemochromatosis?
Venesection
What is venesection?
It is a procedure used to remove red blood cells, which contain iron
It usually involves withdrawing around 200-500mls of blood at intervals suitable to the patient
What two blood tests are use to monitor venesection treatment of haemochromatosis?
Serum Ferritin
Transferrin Saturation
What are the two aims of vensection in haemochromatosis?
Transferrin saturation level < 50%
Serum ferritin concentration < 50ug/l
What is the second line management option of haemochromatosis?
Desferrioxamine
What is the mechanism of action of desferrioxamine?
It binds to free iron in the bloodstream and enhances its elimination in the urine
What are the eight complications of haemochromatosis?
Liver Cirrhosis
Cardiomyopathy
Hepatocellular Carcinoma
Type One Diabetes Mellitus
Hypothyroidism
Hypogonadotrophic Hypogonadism
Chondrocalcinosis
Arthropathy
What is the reversible complication of haemochromatosis?
Cardiomyopathy
What are the four irreversible complications of haemochromatosis?
Liver Cirrhosis
Type One Diabetes Mellitus
Hypogonadotrophic Hypogonadism
Arthropathy
