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
