3.3.3 Pathophysiology: Liver as a Metabolic Organ Flashcards Preview

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Flashcards in 3.3.3 Pathophysiology: Liver as a Metabolic Organ Deck (30)
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1
Q

What is a basic criteria to make a diagnosis of Wilsons?

A

KF rings and low ceruloplasmin

2
Q

What is the King’s college criteria for tylenol toxicity ALF?

A
3
Q

What are the two important mutations in HFE gene?

A

Cys282Tyr

H63Asp

4
Q

How will a patient with tylenol toxicity present in clinic?

A
5
Q

What is this an image of?

A

Liver biopsy with copper stain

6
Q

What are some criteria to diagnose A1-antitrypsin deficiency?

A

Early onset emphysema

Serum protein electrophoresis - low alpha 1-AT

Variable hepatic disease syndromes (attached image)

7
Q

What is this an image of?

A

a1 - AT deficiency

Protein polymers accumulation in the cells

8
Q

Wilson disease most often affects what age of people and presents similar to what?

A

Affects children age 10-13

Presents similar to acute hepatitis

9
Q

What is this an image of?

A

Hemachromatosis - iron accumulation in hepatocytes

10
Q

What are the important genetic characteristics of Hereditary Hemochromatosis? (4)

A

Autosomal recessive - HFE gene

Homozygote frequency - 1 in 300

Heterozygote freq - 8-14%

HFE gene on chromosome 6

11
Q

How can serum copper levels present in a patient with Wilson disease?

A

Total may be increased due to increased free copper

12
Q

What can lead a physician to make a diagnosis of hemochromatosis?

A

Elevated serum ferritin levels

Abnormal liver enzymes

Iron saturation greater than 50%

DNA test 9 HFE Cys282Tyr

Liver biopsy - prussian blue for iron

13
Q

What are some of the criteria required to make a diagnosis of tylenol toxicity?

A

Marked elevation in plasma hepatic enzyme levels > 5000 IU/L

Increased prothrombin time

AST levels tend to be higher than ALT

14
Q

What is the genotype associated with A1-AT deficiency

A

PiZZ

PiMZ

PiMM is normal

15
Q

What is the cause for accumulation of copper in organs from Wilson disease?

A

Genetic defect which encodes a metal transporting ATPase. This leads to reduced hepatic excretion of copper. Copper is not incorperated into ceruloplasmin

16
Q

What is the Kayser-Fleischer ring?

A

A copper ring deposited in decemet’s membrane

Need slit lamp to see

17
Q

Alpha-1 antitrypsin is an inhibitor of what proteolytic enzyme?

A

Elastase

18
Q

What is the important pathophysiology of hemochromatosis?

A

Increased absorption of iron from the diet

Iron overload and eventual fibrosis and organ failure

19
Q

Why can Tylenol be toxic?

A

It can react and create NAPQ1 which will bind covalently with hepatocyte macromolecules, producing hepatic cell lysis. Usually this is delt with by glutathione, but once these are depleted, NAPQ1 will wreak havoc

20
Q

How will patients with hemochromatosis present in clinic?

A

Asymptomatic until ages 45-50

Iron is stored in liver and other organs

There is multiorgan involvement

21
Q

Is iron overload an acute process or long term process?

A

Long term

22
Q

How will alpha1- antitrypsin present in an infant vs early childhood vs adolescence/adults?

A

Infancy - prolonged obstructive jaundice; elevated transaminases and symptoms of cholestasis

Early childhood - Elevated transaminase, asymptomatic hepatomegaly, severe liver dysfunction

Adolescence/adults - Chronic active hepatitis; cryptogenic cirrhosis; portal hypertension; hepatocellular carcinoma

23
Q

What are some of the neuropsychiatric manifestations of Wilson’s disease?

A

Seizures and pseudobulbar palsy

24
Q

What are a few drugs that can be used to treat Wilson Disease?

A

D-penicillamine

Trientine hydrochloride

Zinc acetate

25
Q

Late stage hemachromatosis will present with what additional finding on liver biopsy?

A

There will be fibrosis and nodule formation of liver tissue

26
Q

What can also put a person at increased risk for tylenol toxicity?

A

Taking medications that use the same CYP

27
Q

What are the characteristic liver findings associated with hemochromatosis?

A

Hepatomegaly

Mild elevations of serum aminotransferases and alk phosphatase

Decompensated cirrhosis

Increased risk of liver cancer

28
Q

Where is alpha1 antitrypsin produced? What is its major target?

A

IN the liver and major target is neutrophil elastase

29
Q

What are some circumstances that drastically increase a patients risk for tylenol toxicity?

A

Chronic alcohol abuse

Malnutrition

30
Q

What is the importance of phlebotomy for patients with hemachromatosis?

A

Removal of blood - which in turn will remove iron from the body

Occurs weekly

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