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Year Two - Gastroenterology System > Haemochromatosis > Flashcards

Haemochromatosis Flashcards

1
Q

What is haemochromatosis?

A

It is defined as a genetic condition, in which there is excessive total body iron and deposition of iron in tissues

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2
Q

What is the inheritance of haemochromatosis?

A

Autosomal recessive

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3
Q

Which genetic mutation is associated with haemochromatosis?

A

Human haemochromatosis protein (HFE) gene

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4
Q

What chromosome is the HFE gene located on?

A

Chromosome 6

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5
Q

What is the function of the HFE gene?

A

It is involved in regulating iron metabolism

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6
Q

What are the three early clincial features of haemochromatosis?

A

Fatigue

Hand Arthralgia

Erectile Dysfunction

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7
Q

What are the eleven clinical features of haemochromatosis?

A

Chronic Fatigue

Bronze Hyperpigmentation

Palmar Erythema

Arthritis

Arthralgia

Hair Loss

Hepatomegaly

Amenorrhoea

Erectile Dysfunction

Gynaecomastia

Diabetes Mellitus

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8
Q

Which joints are usually affected by arthralgia in haemochromatosis?

A

Hand joints

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9
Q

What four investigations are used to diagnose haemochromatosis?

A

Blood Tests

MRI Scan

Liver Biopsy

Genetic Testing

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10
Q

What four blood test results indicate haemochromatosis?

A

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

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11
Q

What is the most useful blood test used to diagnose haemochromatosis? Why

A

Transferrin Saturation

This is due to the fact that ferritin is usually not abnormal in the early stages of iron accumulation

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12
Q

How are transferrin saturation levels used to investigate haemochromatosis?

A

It distinguishes between high ferritin caused by iron overload and high ferritin due other causes - such as inflammation or non-alcoholic fatty liver disease

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13
Q

What is the feature of haemochromatotis on MRI scans?

A

A non-specific increase in attenuation of the liver

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14
Q

What stain is used to identify haemochromatosis on a liver biopsy?

A

Perl’s stain

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15
Q

How is a liver biopsy used to investigate haemochromatosis?

A

It is used to establish the iron concentration within the parenchymal cells of the liver – which will be increased in haemochromatosis

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16
Q

What is the gold standard investigation used to diagnose haemochromatosis?

A

Genetic testing

17
Q

How is genetic testing used to diagnose haemochromatosis?

A

It can be used to confirm the presence of a mutation affecting the HFE gene – which is responsible for the development of haemochromatosis

18
Q

What is the first line management option of haemochromatosis?

A

Venesection

19
Q

What is venesection?

A

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

20
Q

What two blood tests are use to monitor venesection treatment of haemochromatosis?

A

Serum Ferritin

Transferrin Saturation

21
Q

What are the two aims of vensection in haemochromatosis?

A

Transferrin saturation level < 50%

Serum ferritin concentration < 50ug/l

22
Q

What is the second line management option of haemochromatosis?

A

Desferrioxamine

23
Q

What is the mechanism of action of desferrioxamine?

A

It binds to free iron in the bloodstream and enhances its elimination in the urine

24
Q

What are the eight complications of haemochromatosis?

A

Liver Cirrhosis

Cardiomyopathy

Hepatocellular Carcinoma

Type One Diabetes Mellitus

Hypothyroidism

Hypogonadotrophic Hypogonadism

Chondrocalcinosis

Arthropathy

25
Q

What is the reversible complication of haemochromatosis?

A

Cardiomyopathy

26
Q

What are the four irreversible complications of haemochromatosis?

A

Liver Cirrhosis

Type One Diabetes Mellitus

Hypogonadotrophic Hypogonadism

Arthropathy

Year Two - Gastroenterology System (33 decks)

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