151b - Pathology of Metabolic Liver Disease, Viral Hepatitis, and Cirrhosis

Question 1

Which gene mutation results in hemochromatosis?

(Gene, specific substitution, chromosome)

Answer 1

HFE gene

C282Y

Chromosome 6

• Mutated HFE
• -> Reduced hepcidin production
• -> More ferroportin in the cell membrane
• -> Increased iron absorption

Normally, hepcidin binds to ferroportin and prevents insertion into the cell membrane

Question 2

What histologic change defines chronic viral hepatitis?

Answer 2

Mononuclear portal infiltration

Question 3

What histologic changes are characteristic of chronic HCV?

Answer 3

Lymphoid aggregates

Portal to portal bridging fibrosis (basically, extensive fibrosis)

Question 4

When does hereditary hemochromatosis present?

Answer 4

Age 40-50

(It takes awhile for iron to accumulate to damaging levels)

Question 5

Describe 3 signs/symtoms of hemochromotosis

Answer 5

Cirrhosis

Bronze skin

Diabetes

Question 6

Which protein is the main regulator of iron absorption?

Answer 6

Hepcidin

• Production of hepcidin is regulated by HFE
  
  • HFE is mutated in hemochromotosis
  • -> Reduced hepcidin
  • -> More unboudn feroportin
  • -> More iron absorption

Question 7

Which gene mutation results in Wilson’s disease?

(Gene, chromosome, protein)

Answer 7

ATP7B gene

Chromosome 13

Deficienty copper-transporting ATPase, resulting in impaired excretion of copper

Question 8

What protein should you measure if you suspect Wilson’s disease?

What results would confirm the diagnosis?

Answer 8

Ceruloplasmin (copper boudn to alpha2-globulin)

If low => Wilson’s disease

Low ceruloplasmin = high free copper -> damage

(Accumulates in the iris, brain)

Question 9

What histologic change represents accumulation of HBV core antigen?

Answer 9

Ground glass nuclei