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GI, liver, kidney > Haemochromatosis > Flashcards

Haemochromatosis Flashcards

1
Q

What is haemochromatosis

A

Inherited autosomal recessive disorder leading to increased iron due to inreased intestinal absorption and release from bone marrow macrophages

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2
Q

What gene does haemochromatosis affect and what mutation causes this

A

HFE gene
Mutation - C282Y or H63D

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3
Q

Which combination of mutations are most and least likely to cause iron overload in haemochromatosis

A

C282Y/C282Y homozygous - 95% risk
C282Y/H63D -> 4% risk
H63D homozygous - least likely cause

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4
Q

How is haemochromatosis identified clinically

A

Raised ALT
Abnormal liver imaging - fatty
Elevated serum ferritin

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5
Q

Symptoms of haemochromatosis

A

Joint pain - esp hands and fingers
Fatigue
Mood disorders - depression, anxiety, mood swings
Hypogonadism
Other - abdo pain, palpitations, SOB, infertility, hair loss, amenorrhea

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6
Q

What age does haemochromatosis present at

A

40-60 in men, post menopausal in women

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7
Q

What does advanced haemochromatosis cause

A

Diabetes
Bronze skin
Hepatomegaly, cirrhosis, Arthropathy of 2nd and 3rd MCP joints
Cardiomyopahty + HF

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8
Q

What is secondary haemochromatosis

A

Iron overlaod due to parenteral iron - multiple blood transfusions, IV iron, haemotological disorders - disease of erythropoieseis - ineffecitve accumulates iron
Over supplemetnation iron esp w vit C

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9
Q

What is serum feerritin in haemochromatosis

A

15-200 (women) 300(men) = normal
Haemochromatosis = 1000s

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10
Q

Why do you need transferrin saturation as well as ferritin

A

Ferritin is also raised in chronic alcohol abuse, NAFLD, inflam conditions + malignancy - acute phase protein raised

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11
Q

What need for diagosis of haemochromatosis

A

Elevated serum ferritin and transferrin saturation + screen for genes
Assess for liver damage

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12
Q

When need to exclude cirrhosis in haemochromatosis

A

Ferritin >1000

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13
Q

Do you have haemochromatosis if you have the C282Y.C282Y homozygosity

A

No - have to also have raised iron
Can have genotype and not gene expresson
Monitor annually

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14
Q

Treatment for haemochromatosis

A

Venesection

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15
Q

Acute iron removal venesection how and goal

A

450ml blood removed
Goal to reduce SF 20-25ug/L
Continue until SF 50-100ug/L
12-18 monhts weekly
Then go to 2 weekly

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16
Q

Maintenance venesection

A

2-4 per year - keep SF 50-100

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17
Q

What acute phase reactant protein is affected by HFE

A

Hepicidin - regulates iron stores
HFE mutation decreases acitivity

18
Q

What is the pathophysiology of organ damage in haemochromatosis

A

Fenton reaction - Fe2+->Fe3+ releases hydroxyl free radicals -> oxidative damage - apoptosis

19
Q

Type I haemochromatosis

A

Only in white populations
90 cases

20
Q

Type 2 haemochromatosis when present

A

Juvenile - presents in early adulthood (20s+30s)

21
Q

What genes are type 2 haemochromatosis mutations caused by

A

2A - haemojuvelin gene
2B - hepicidn gene A

22
Q

What features are often more present in type 2 haemochromatosis

A

Hypogonadism
Cardiomyopathy

23
Q

Type 3 haemochromatosis

A

Transferrin receptor 2 mutation on chromosome 7, clincially same as HFE haemo

24
Q

Tyoe 4 haemochromatosis

A

4A - low transferin saturation and macrophage iron depositis
4B - clinical same as HFE haem.

25
Q

Diagnostix level for serum ferritin haemochromatosis

A

> 674 picomols/L in men
449 in women

26
Q

Transferrin saturation in haemochromatosis level

A

> 45%

27
Q

LFTs in haemochromatosis

A

Raised AST and ALT - likely not more than 2 x normal

28
Q

When refer to hepatology

A

Clinical evidence of liver involvement and/or serum ferritin >2247pmol/L must be referred to hepatology for liver biopsy to estimate hepatocyte iron content and assess extent of fibrosis or cirrhosis.

29
Q

Further investigations for complications of haemochromatosis

A

Fasting blood sugar
ECG - arrhtymia, decreased QU=RS amplitude
ECHO
Testosterone, FSH, LH - low

30
Q

What hyperferritin conditions are differentials for HCT

A

Dysmetabolic hyperferritenmia
Herditary aceruloplasminaemia
- undetectable serum ceruloplasmin, ass with neuro symptoms

31
Q

What advice give to patinet with haemochromatosis

A

Avoid iron and iron-containing supplements
Avoid vitamin C supplements (which increases the bioavailability of iron for enteric absorption), except in iron chelation therapy where it may increase therapeutic value
Limit or avoid alcohol
Consider hepatitis A and B vaccinations if no previous encounter.

32
Q

Stage 0 what is it and how foten monitor

A

Everything normal - monitor iron labs and symptoms every 3 years

33
Q

Stage 1 - what is and how often monitor

A

Transferrin sats >45%, normal ferritin, no symptoms
Monitor 1 year

34
Q

Stage 2,3,4 haemochromatosis what is and management

A

Transferrin sats>45%, raised ferritin and/or clinical symptoms
Venesection

35
Q

Goal for weekly venesection

A

<50% trasnferrin saturation can take several months

36
Q

What is iron chelation therapy indicated in

A

Stage2,3,4 haemochromatosis for wom venesection CI

37
Q
A
38
Q

When is venesection CI

A

Anaemia, cardiac dsease, venous access issues

39
Q

Medication for haemochromatosis

A

Iron chelation therapy - deferasirox (oral), desferrioxamine)

40
Q

What does haemochromatosis increase the risk of

A

Susceptible to certain orangisms eg listeria monocytogenes
Osteoporosis

41
Q

Why does haemochromatosis cause hypogonadism

A

Iron depositis in pituitary

42
Q

Liver transplant in haemochromatosis

A

Indicated for cirrhosis and cancer development but post-transplant prognosis (1- and 5-year survival) is significantly worse for haemochromatosis compared to other diseases that necessitate liver transplant

GI, liver, kidney (50 decks)

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