Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Z Year3 Gastro Conditions > Haemochromatosis > Flashcards

Haemochromatosis Flashcards

1
Q

What is haemochromatosis?

A

multisystem disorder of dysregulated dietary iron absorption and increased iron release from macrophage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What sort of genetic syndrome is haemochromatosis?

A

autosomal recessive disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What gene and mutations are responsible for haemochromatosis?

A

HFE gene and 2 commonest mutations: C282Y AND H63D

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is typical epid for haemochromatosis?

A
  • male
  • northern european
  • middle age
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are RF for haemochromatosis?

A
  1. Male gender
  2. Middle age
  3. Positive family history
  4. High dietary iron intake
  5. White ancestry
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the symptoms of haemochromatosis?

A
  1. Fatigue
  2. Weakness
  3. Lethargy
  4. Athralgias
  5. Hepatomegaly
  6. DM
  7. Impotence in males
  8. Loss of libido
  9. Skin pigmentation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the possible differential diagnosis of haemochromatosis?

A
  1. Iron overload from chronic transfusion
  2. Hepatitis B
  3. Hepatitis C
  4. Non-alcoholic fatty liver disease (NAFLD)
  5. Dysmetabolic hyperferritinaemia
  6. Excessive iron supplementation
  7. Hereditary aceruloplasminaemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What the 1st line investigation for haemochromatosis?

A
  1. Serum transferrin

2. Serum ferritin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What would serum transferrin saturation be like in haemochromatosis?

A

> 45%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What would serum ferritin be like in haemochromatosis?

A

: raised; >674 picomols/L (>300 nanograms/mL) in men; >449 picomols/L (>200 nanograms/mL) in women

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What other investigations would you consider for haemochromatosis?

A
  1. HFE mutation analysis
  2. MRI liver: liver to muscle signal intensity <0.88
  3. Liver biopsy: iron content raised (PERL’S STAIN)
  4. LFTs: aminotransferase levels above normal
  5. Fasting BS: raised
  6. ECHO: mixed dilated-restrictive or dilated cardiomyopathy
  7. ECG : decreased QRS amplitude and T-wave flattening or inversion
  8. Test, FSH, LH: lower than normal levels
  9. Bone densitometry: osteopenia (T score
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is stage 0 disease?

A

C282Y homozygosity with normal serum transferrin saturation and ferritin, and no clinical symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the 1st line treatment for stage 0 disease?

A

1st line: observation and 3 yearly follow up
Plus: lifestyle modifications
Adjunct: Hep A + B vaccine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is stage 1 disease?

A

C282Y homozygosity with increased transferrin saturation (>45%), normal ferritin, and no clinical symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the 1st line treatment for stage 1 disease?

A

1st line: Observation and 1 yearly follow up
Plus: lifestyle modifications
Adjunct: Hep A and B vaccine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the 1st line treatment for stage 2,3,4 disease?

A

1st line: phlebotomy regime – venesection until ferritin is <50mcg/L
Plus: lifestyle modifications
Adjunct: Hep A and B vaccine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the 2nd line treatment for stage 2,3,4 disease?

A

2nd line: iron chelation therapy
Plus lifestyle modifications
Adjunct: hep A and B vaccine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are the possible complications of haemochromatosis?

A
  1. Cirrhosis
  2. DM
  3. Chronic congestive heart failure
  4. Hepatocellular carcinoma
  5. Hypogonadism
  6. Bonne loss
  7. Infections
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the prognosis for haemochromatosis?

A

VENESECTION RETURN LIFE EXPECTANCY TO NORMAL IF NON DM AND NON CIRRHOTIC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is a primary haemochromatosis?

A

(AR inherited) due to mutation of HFE gene on Chr 6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is secondary haemochromatosis?

A

due to frequent blood transfusions, iron supplementation or diseases of erythropoiesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the epid for haemochromatosis?

A
  1. More common in middle aged males

2. Females present later

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are the molecules involved in iron transport?

A
  1. transferrin
  2. hepcidin
  3. ferroportin
24
Q

What is the main function of transferrin?

A
  1. to deliver iron to where it is needed
  2. via the plasma
  3. holds iron in an inert state whilst it travels through the blood
25
Q

What is the function of ferroportin?

A

portal for iron to travel from the intestine into the blood

26
Q

What is hepicidin?

A

APP which essentially destroys ferroportin seeking to inhibit iron absorption in the blood (physiological regulation)

27
Q

What is the patho of herediatary/primary haemochromatosis?

A
  1. a defect in the HFE gene means that transferrin binds poorly to its receptor
  2. causing the liver to reduce hepcidin production
28
Q

What is the result of the reduced hepicidin production?

A
  1. ferroportin activity in the enterocytes is unregulated
  2. so more iron is transported across the enterocytes
  3. this results in iron accumulation and damage to the affected organs.
29
Q

Why do females present later in haemochromatosis?

A

as they have an additional method of excreting iron through menstruation, whereas this is not possible in males so iron accumulates more quickly

30
Q

What are the commonly affected organs in haemochromatosis?

A
  1. liver
  2. pancreas
  3. skin
  4. pituitary
  5. heart
  6. joints
31
Q

What is the classic triad for haemochromatosis?

A
  1. cirrhosis
  2. diabetes
  3. bronze pigmentation
32
Q

What are the common non-specific symptoms of haemochromatosis?

A
  1. lethargy
  2. impotence
  3. arthralgia
33
Q

What are the symptoms relating to haemochromatosis?

A
  1. deranged LFTs

2. diabetes mellitus

34
Q

What is haemochromatosis?

A

multisystem disorder causing multi organ dysfunction due to iron deposition and its toxicity to cells

35
Q

What bloods are done and the result for haemochromatosis?

A
  1. Serum ferritin raised
  2. Transferrin sat >45%
  3. LFTs raised AST and ALT
  4. FBC normal
36
Q

What genetic testing is done for haemochromatosis?

A

C282Y mutation of HFE gene

37
Q

What other Ix are done for haemorhcromatosis?

A
  • Liver biopsy

* Further Ix guided by the PC

38
Q

When are Ix done?

A

clinical features of haemochromatosis OR for 1st degree relatives of hereditary haemochromatosis patients

39
Q

What does serum ferritin show?

A

APP that acts as a store of iron – it indicates the level of iron stores in the body

40
Q

Why are transferrin sats so high for haemochromatosis?

A
  1. more iron

2. less transferrin due to defective gene

41
Q

When are LFTs indicated in haemochromatosis?

A

if there is iron deposition causing hepatocyte toxicity

42
Q

Why do you do FBC with haemochromatosis?

A

important to ensure you rule out other causes of fatigue and lethargy such as IDA

43
Q

What other Ix may be done for haemochromatosis?

A
  1. fasting blood sugars
  2. ECG/echo
  3. serum gonadotrophin levels
44
Q

What is management guided by?

A
  1. serum transferrin saturation
  2. ferritin
  3. clinical symptoms
45
Q

What lifestyle changes are advised for haemochromatosis?

A

on avoiding exogenous iron and vitamin C supplements, limiting alcohol intake

46
Q

What is stage 0 haemochromatosis?

A

normal iron labs with no clinical symptoms

47
Q

What is the management for stage 0 haemochromatosis?

A

monitoring iron labs and symptoms every 3 years

48
Q

What is stage 1 haemochromatosis?

A

transferring sats>45%, normal ferritin, no symptoms

49
Q

What is management for stage 1 haemochromatosis?

A

monitoring iron labs and symptoms every 1 year

50
Q

What is stage 2-4 haemochromatosis?

A

Transferrin sats>45%, raised ferritin, +/- clinical symptoms

51
Q

What is stage 2-4 haemochromatosis management?

A

venesection/iron chelation therpay

52
Q

What is end stage liver disease?

A

features of chronic liver failure and cirrhosis

53
Q

What is the management for end stage liver disease?

A

liver transplant

54
Q

What is Phlebotomy treatment?

A
  1. Phlebotomy , or venesection, is the process by which blood is removed from the patient
  2. to stimulate haematopoiesis,
  3. utilising some of the excess iron for haem synthesis
55
Q

When is iron chelation therapy indicated for?

A

stage 2, 3 or 4 patients for whom phlebotomy is contraindicated (such as anaemia, cardiac disease or venous access issues)

56
Q

When is iron chelation therapy contraindicated?

A
  1. anaemia
  2. cardiac disease
  3. venous access issues
57
Q

What are patient outcomes for transplantation for haemochromatosis?

A
  • patients with end-stage cirrhotic liver disease due to haemochromatosis are candidates for liver transplantation
  • important to note that transplant outcomes are worse compared to other causes of cirrhosis

Z Year3 Gastro Conditions (48 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions