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Gastrointestinal > Inherited Liver Dz > Flashcards

Inherited Liver Dz Flashcards

1
Q

Iron absorption from the gut exclusively occurs where

A

Duodenum…about 60mg/ day

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2
Q

Iron is absorbed and stored as what

A

Ferritin

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3
Q

Iron released into the circulation at the rate of

A

1-2 mg per day

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4
Q

Iron in the circulation is bound to

A

Tranferrin…This iron is taken up by hepatocytes where it is again stored in ferritin

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5
Q

If iron in the circulation is not taken up by the hepatocytes and stored in ferritin, it is involved in RBC synthesis

A

ok

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6
Q

Anything that disrupts iron absorption can lead to

A

iron overload

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7
Q

What is the principle iron regulatory hormone?

A

Hepcidin

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8
Q

Regulation of hepcidin release is the central mechanism in the pathogenesis of

A

Hereditary Hemochromatosis

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9
Q

Hepcidins job is to downregulate iron release

A

ok

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10
Q

Hepcidin levels are increased when?

A

There is excess iron or inflammation

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11
Q

Mutations in the HFE gene lead to what

A

Decreased Hepcidin expression leading to increased intestinal absorption of Fe via ferroportin

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12
Q

What is the most common genetic disorder affecting caucasians?

A

Hemochromatosis

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13
Q

Type 1 Hemochromatosis

A

HFE mutations

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14
Q

Net result of HC?

A

too much iron….it accumulates in tissues,,,,oxidative stress and tissue damage

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15
Q

90% of HC related to

A

HFE mutation

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16
Q

Most common HFE gene mutation

A

C282Y….G to A missense

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17
Q

When do hemochromatosis pts generally present?

A

men= over 40, women= over 50

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18
Q

General symptoms of hemochromatosis

A

Fatigue, aches and pain, arthritis

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19
Q

Liver findings in Hemochromatosis

A

Cirrhosis

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20
Q

Heart

A

Restrictive cardiomyopathy

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21
Q

Bronze diabetes is a common finding

A

ok

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22
Q

Arthritis generally located where

A

2nd and 3rd metacarpal

23
Q

classic triad of hemochromatosis?

A

Micronodular cirrhosis, Diabetes Mellitus, and skin pigmentation

Pts may also develop gonadal atrophy and high risk of hepatocellular carcinoma

24
Q

Type II hemochromatosis

A

Lack of hepcidin due to a mutation at the Genes encodine HAMP and HJV. Age of onset is 10-15 years. More cardiac involvement

25
Q

Type III HC

A

Transferrin receptor mutation

26
Q

Type IV HC

A

Ferroportin mutation

27
Q

Liver disease mostly seen in which types

A

I and III

28
Q

Cardiomyopathy and heart failure seen in which types

A

Type II

29
Q

Endocrine disorders seen in which types

A

II and III

30
Q

First step in diagnosis of HC is documenting the excess Iron. How do you do this

A

Divide Serum iron by serum transferrin. If Serum transferrin is over 45% saturated then you suspect iron overload

31
Q

Excess iron stoarage suspected. Measure serum ferritin

A

ok

32
Q

Next step

A

HFE gene mutation

33
Q

MRI shows

A

Liver will be much darker (less signal intensity than the spleen)

34
Q

Screening for HFE….If someone is identified who has HFE mutation, all first degree relatives should also be checked

A

ok….check ferritn saturations and also check for the C282Y gene mutation

35
Q

Hemochromatosis treatment

A

The focus is on removing excess Iron

Phlebotomy is really the only option for each type

36
Q

Phlebotomy needs to be performed until —– is less than —

A

Ferritin is less than 50ng/ml

37
Q

What other dietary measures need to be taken by someone with hemochromatosis?

A

Avoid Vitamin C, Decrease alcohol intake, Decrease Iron intake

38
Q

It is important to initiate treatment as early as possible. Survival improves if you can start treating them prior to onset of cirrhosis/diabetes

A

ok

39
Q

Hypogonadism, arthropathy and cirrhosis are irreversible

A

ok

40
Q

What is Wilson’s disease

A

Excessive copper deposition

41
Q

Target organs in Wilson’s disease?

A

Liver, Brain, Kidneys

42
Q

Where is copper absorbed?

A

Duodenum

43
Q

95% of plasma copper is bound to?

A

Ceruloplasmin…this copper can be taken up and used for various processes in different organs

44
Q

Wilson’s disease presents when?

A

Early in life

45
Q

Neurologic manifestations in wilson’s disease are

A

behavioral changes, dementia, chorea, parkinsonian like symptoms, etc…

46
Q

Know fulminant liver failure signs

A

they will die if you do not transplant them

47
Q

When to suspect wilsons

A

any pt under 40 with high AST/ALT
Neuropsychiatric disease with liver disease
Any young pt with liver disease

48
Q

Labs for wilsons

A

high urinary copper, low ceruloplasmin, high copper on liver biopsy

49
Q

Know Kayser Fleischer rings

A

USually present in thse with psychological symptoms…sometimes low in others

50
Q

Genertic testing in Wilsons

A

Usually not advised…too many possibilities

51
Q

Alpha 1 Antitrypsin is what

A

a protein produced by the liver who’s main function is to neutralize neutrophil elastase (produced by macrophages…if it increases it can have a proteolytic effects and cut up proetins like elastin…becomes problematic in the lungs and other tissues)

52
Q

To have a functional alpha 1 antitrypisn, which phenotype do you need

A

MM

53
Q

Two zz’s

A

bad news. protein cant be secreted

54
Q

hen to suspect

A

cirrhosis of undetermined cause
emphysema and cirrhosis
Emphysema in a non-smoker (uncontrolled elastase)

Gastrointestinal (58 decks)

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