EXAM #2: LIVER PATHOLOGY IV Flashcards Preview

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Flashcards in EXAM #2: LIVER PATHOLOGY IV Deck (60)
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1

What is Hereditary Hemochromatosis?

Herediatry disorder that increases the amount of iron absorbed from the gut

2

What gene is implicated in Hereditary Hemochromatosis?

HFE gene

3

What is the link between transferrin, hepcidin, and iron absorption?

- Hepcidin blocks Fe++ absorption from the gut
- Decreased Hepcidin causes increased Fe++ absorption from the gut
- HFE membrane product regulates the transcription of Hepcidin

4

What is the pathogenic change that happens in early hemochromatosis?

Fe++ deposits in periportal hepatocytes

5

What is the pathogenic change that happens in advanced hemochromatosis?

Fe++ deposition in:
- Kupffer cells
- Bile duct epithelium
- Fibrous septa

6

What are the lab findings in Hereditary Hemochromatisis?

- High Ferretin
- Low TBIC
- High serum iron
- High % saturation

*Classically there is 2x normal transferrin saturation and and drastically elevated serum ferretin

7

What are the complications of Hereditary Hemochromatosis?

1) DM
2) Cardiomyopathy
3) Hypogonadism
4) Skin pigmentation
5) Pseudo-gout

8

What is the mnemonic to remember the causes of secondary iron overload? What is most common?

THALAS

T= Transfusion*****
H= Hemochromatosis
A= Alimentary (Bantu siderosis)
L= Liver Disease
A= Anemia (Thalassemia)
S= Sideroblastic anemia

9

In secondary hemochromatosis, where is iron loaded?

Macrophages i.e. Kupffer cells

10

What is the treatment for Hemochromatosis?

Phlebotomy

11

List the roles that copper plays in the body.

1) Pigment formation
2) NT production
3) Peptide formation
4) Connective tissue biosynthesis
5) Antioxidant defense

12

What is the role of ceruloplasmin in the body?

Liver protein that binds copper for non-toxic circulation in the body

13

What is Wilson's Disease?

Herditary disease that causes the body to retain copper
- Decreased ceruloplasmin
- Excessive copper deposition

14

What organs are most affected by Wilson's Disease?

Brain
Kidneys

15

What gene is mutated in Wilson's Disease?

ATP7B copper transporter

16

What is the result of the mutation in Wilson's Disease?

- Impaired biliary copper excretion
- Copper cannot get to the biliary canaliculi

17

What are the clinical manifestations of Wilson's Disease?

1) Degeneration of the basal ganglia causing a PD like pheotype
2) Hepatitis
3) Cirrhosis
4) Hemolytic anemia
5) Cardiomyopathy

18

What is the most common initial manifestation of Wilson's Disease in children?

Hepatitis

19

What is the most common initial manifestation of Wilson's Disease in adults?

Neurologic/ psychiatric disease

20

How is Wilson's Disease diagnosed?

- Low serum ceruloplasmin
- Increased urinary copper
- Increased hepatic copper

21

What PE sign is associated with Wilson's Disease?

Kayser-Fleischer rings

22

How is Wilson's Disease treated?

Chelation

23

What is alpha-1 antitryspin deficiency?

- Deficiency in the enzyme that inhibits proteases
- Leads to abnormal breakdown of proteins, especially in lungs

24

What genotype is assocaited with alpha-1 antitrypsin?

PiZZ
- Normal genotype of antitrypsin is PiMM
- PiZZ variant is the most clinically significant form that leads to alpha-1 antitrypsin deficiency

25

What is the etiology of alpha-1 antitryspin deficiency?

Misfolded/nonfunctional PiZ accumulates in hepatocytes

26

What are the clinical manifestations of alpha-1 antitryspin deficiency in children?

Hepatitis/cholestasis

27

What are the clinical manifestations of alpha-1 antitryspin deficiency in adults?

Chronic hepatitis/cirrhosis

28

How is alpha-1 antitryspin deficiency diagnosed?

- Low serum Alpha-1 AT
- Abnormal Alpha-1 AT electrophoresis
- Liver biopsy

29

Aside from liver disease, what else is highly associated with alpha-1 antitryspin deficiency?

Early onset emphysema

30

What is Focal Nodular Hyperplasia of the liver?

- Benign tumor of the liver
- More common in women
- Asymptomatic--does NOT require treatment