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GI II - EXAM 2 > Liver Pathology 4 - SRS > Flashcards

Liver Pathology 4 - SRS Flashcards

1
Q

What are the inherited diseases of the liver we covered?

A
  1. Hemochromatosis
  2. Wilson disease
  3. Alpha-1-antitrypsin deficiency
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2
Q

What are the two types of hemochromatosis?

A

Hereditary

Secondary

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3
Q

What is the inheritance pattern for wilson disease?

What does it result in?

A

Autosomal recessive

Impaired copper excretion and failure to incorporate copper into ceruloplasmin

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4
Q

Iron homeostasis depends on what?

A

Hepcidin regulating ion transport across membranes and intracellular storage.

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5
Q

What is the most common mutation that leads to decreased hepcidin synthesis?

A

Mutation in the HFE protein

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6
Q

In the HFE mutation, when does the onset of the symptoms usually arise?

A

Late onset (graphic appears to show late 40’s and 50’s)

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7
Q

If a patient experiences early life onset iron overload, what are the two likely mutations?

A

HAMP

HJV

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8
Q

Hereditary hemochromatosis is one of the most common genetic disorders in humans.The adult form of hemochromatosis is almost always caused by mutations of HFE which regulates the production of hepcidin.

What are the typical causes of death in patients with hemochromatosis?

A

Cirrhosis

Cardiac disease

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9
Q

What is the classic tetrad of hemochromatosis?

A
  • Hepatomegaly
  • Skin pigmentation
  • Destruction of pancreatic islets
  • Cardiomyopathy
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10
Q

What is the screening test for hemochromatosis?

A

Transferrin saturation - will be High if positive

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11
Q

After a positive screening test, what should be done to dx hemochromatosis?

A

–MRI of liver to get idea of iron content

–Iron biopsy (iron content; fibrosis) Not as useful

–HFE mutation (genotype)

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12
Q

What is the treatment for hemochromatosis? Outcome?

A

Phlebotomy to achieve mild iron deficiency - goal is mild microcytic/hypochromic anemia

Life expectancy with treatment is normal

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13
Q

What are three causes of secondary hemochromatosis?

A

Blood transfusions

Iron supplements

Excess dietary iron

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14
Q

Blood transfusions for what conditions specifically are associated with secondary hemochromatosis?

A

–Myelodysplastic syndromes

–Chronic kidney disease

–Leukemia

–Hemoglobinopathies

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15
Q

What is the keyword associated with the diabetes from hemochromatosis?

What causes this to develop?

A

Bronze diabetes

Pigment is d/t increased epidermal melanin

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16
Q

What do you see here?

What caused it?

A

Liver and pancreas are both brown from hemochromatosis derived iron overload

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17
Q

What is shown here?

A

Hemochromatosis

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18
Q

What is shown here?

A

Cirrhosis secondary to hemochromatosis

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19
Q

What is the inheritance pattern for wilson disease?

Where do the toxic levels of copper tend to accumulate?

A

Autosomal recessive

Accumulations in the:

Liver

Brain

Eye

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20
Q

At what ages and with what conditions do patients with Wilson disease typically present?

A

Liver disease age 5 - 15

or

neuropsychiatric in their 20’s

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21
Q

What is the treatment for Wilson disease?

A

Chelation

Penicillamine

Liver transplant if cirrhosis

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22
Q

Where is copper absorbed?

What happens to it in the liver?

A
  • Dietary copper is absorbed in duodenum
  • In the liver, copper is incorporated into apoceruloplasmin to produce ceruloplasmin
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23
Q

What is a hallmark lab finding in Wilsons disease?

A

Decreased cerulloplasmin

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24
Q

What percent of plasma copper is bound to ceruloplasmin?

A

90-95%

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25
Q

What mediates the excretion of ingested copper in bile and production of ceruloplasmin?

A

Copper transporting atpase

26
Q

As mentioned earlier, screening testing for Wilsons is done with serum ceruloplasmin. What are the specific and sensitive tests?

A
  • Increased urine copper (specific)
  • Increase liver copper content by biopsy (most sensitive, highest positive predictive value)
27
Q

Your patient had a low serum ceruloplasmin level so you took a biopsy. What did you stain the tissue with here and what did it reveal?

A

Stain with rhodanine (copper stain)

Shows copper accumulation indicative of Wilson disease

28
Q

This 18-year-old woman presented intermittent tremor of the hands since the age of 15 years. What is the finding shown at left? What condition is this seen in?

A

Kayser-Fleischer ring

Wilsons disease

29
Q

Where does the copper deposition in the brain d/t wilsons disease typically end up?

A

Basal Ganglia

30
Q

What is the inheritance pattern of Alpha1-Antitrypsin Deficiency?

What is defective?

A

•Autosomal recessive disorder of protein folding marked by very low levels of circulating α1-Antitrypsin (α1AT)

31
Q

What is the major function of α1-Antitrypsin (α1AT)?

What is the most common clinically significany mutation and what are the circulating levels of α1-Antitrypsin (α1AT)?

•

•

A
  • Major function of this protein is the inhibition of proteases
  • The most common clinically significant mutation is PiZ

–α1AT levels are only 10% of normal

32
Q

Alpha-1 Anti-trypsin deficiency can present in the neonate, how?

A

•Neonatal hepatitis with cholestatic jaundice appears in 10% to 20% of newborns with the deficiency

33
Q

What are two possible consequences of alpha-1-antitrypsin deficiency?

A
  • Hepatocellular carcinoma develops in 2% to 3% of PiZZ adults
  • Panlobular emphysema
34
Q

What does the PASD stain show here?

What does this lead to?

A

Pooled accumulation of misfolded alpha-1-antitrypsin

Leads to apoptosis, inflammation, cirrhosis

35
Q

This liver was removed from a 6 year old. What likely caused this?

A

α1-AT deficiency

36
Q

In Primary Biliary Cirrhosis, Autoimmune cholangiopathy, a disease of unknown etiology, selectively affects What?

A

Small intrahepatic bile ducts

37
Q

What does the damage in primary biliary cirrhosis progress to?

A

•progressive bile duct damage, chronic cholestasis, biliary fibrosis/cirrhosis leading to hepatic failure

38
Q

What population is most often affected by primary biliary cirrhosis?

A

Middle age women with a peak incidence in the 40 - 50 age group

39
Q

60% of patients with primary biliary cirrhosis are asymptomatic, and it affects women 9 times more often than men. What antibodies are the most characteristic laboratory finding?

A

Anti-mitochondrial antibodies (AMA)

40
Q

What are the alkaline phosphatase levels like in primary biliary cirrhosis?

A

Elevated, 3-5x normal

41
Q

In addition to AMA, what other antibodies can be seen in primary biliary cirrhosis? In what patients is this more common?

A

ANA - mostly in male patients with the condition

42
Q

The Initial injury in primary biliary cirrhosis affects the small interlobular bile ducts within portal tracts leading to progressive duct loss. What are characteristically seen associated with damaged bile ducts in the early stages?

A

Epitheliod granulomas and lymphocytic reaction

43
Q

Do all patients with primary biliary cirrhosis progress to cirrhosis?>

A

Nope

44
Q

What do you see in this sample taken from a patient with primary biliary cirrhosis?

A

Portal tract markedly expanded by infiltrate of lymphocytes and plasma cells. The granulomatous reaction involves a bile duct undergoing destruction (florid duct lesion)

45
Q

What happened to this liver?

A

Bile stained d/t end stage biliary cirrhosis

46
Q

Primary Sclerosing Cholangitis is a progressive disease of liver characterized by cholestasis with obliterative fibrosis of?

A

intra- and extrahepatic bile ducts with dilation of preserved segments

47
Q

What is coexistant in up to 70% of primary sclerosing cholangitis cases?

A

Inflammatory bowel disease

(90% Ulcerative colitis, 10% Crohn disease)

48
Q

Primary Sclerosing Cholangitis is a mostly male disease (2:1), presenting at age 40 years with symptoms of chronic liver disease and typically live 10-15 years. The prognosis is variable with patients having what two possible outcomes?

A

Recurrent cholangitis

biliary cirrhosis

49
Q

What is the pathogenesis of PSC?

A

Pathogenesis is unknown but features suggest an immunologic process involving T cells

50
Q

What are the treatment options for PSC?

A

No cure

Cholestyramine for pruritus

liver transplant for liver failure

51
Q

PSC is diagnosed with both pathologic and radiologic findings. What lab values might we find in this condition?

A
  • Elevate alkaline phosphatase (90% of patients)
  • Perinuclear antineutrophilic cytoplasmic antibody (pANCA) (90% of patients) (non-specific finding)
52
Q

On imaging what will you see in PSC?

A

Large duct disease with strictures, beading and dilation

53
Q

What does a liver biopsy of a PCS patient reveal? 4

A
  1. obliterative cholangitis with inflammation
  2. characteristic periductular onion ring fibrosis,
  3. ductopenia
  4. secondary biliary cirrhosis
54
Q

What is shown here?

A

PCS

  • left: a histologic specimen demonstrating fibrosis and inflammation surrounding the bile duct.
  • The gross specimen demonstrates the thickening of the wall of the bile duct (arrow) causing many strictures.
55
Q

What is this finding typical of?

A

Primary Sclerosing Cholangitis: characteristic “onion-skin” fibrosis affecting small ducts in the liver parenchyma

56
Q

What does this Endoscopic Retrograde Cholangiopancreatogram (ERCP)indicate our patient has?

A

PSC - note the strictures and dilations of the ducts

57
Q

How often does GVHD develop in hematopoietic stem cell transplantaion?

A

up to 70% of patients

58
Q

What is the most characteristic histological feature of graft versus host disease impact on the liver?

A

Bile duct damage

59
Q

This specimen demonstrates a characteristic feature of chronic GVHD, can you spot it?

A

Probably not, since it’s vanishing bile duct syndrome… and just like that… it’s gone.

60
Q
A

GI II - EXAM 2 (11 decks)

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