Gilbert Disease


Cytoplasmic Pigment
H&E at high power shows lipofuscin pigment image in centrizonal hepatocytes.



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PAS-D Stain
Periodic acid-Schiff with diastase digestion accentuates the granular pigment in centrizonal hepatocytes image, even though the pigment is not PAS-D positive.

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Fontana-Masson Stain
Fontana-Masson stain highlights the increased lipofuscin marked by black staining in the centrizonal hepatocytes.

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Iron Stain
Prussian blue stain for iron is negative and helps to confirm that the cytoplasmic pigment is not hemosiderin.



TERMINOLOGY


Definitions




• Inherited unconjugated hyperbilirubinemia due to mutations of bilirubin uridine diphosphate glucuronosyltransferase (B-UGT or UGT1A1 ) gene


ETIOLOGY/PATHOGENESIS


Genetic Disorder




• Extra TA in TATAA box of UGT1A1 promoter (this variant is known as B-UGT*28)
image Decreased transcription of gene to 20% of normal

– Decreased conjugation of bilirubin with glucuronic acid

– Decreased conjugation of some drugs (irinotecan, atazanavir, TAS-103, indinavir, tolbutamide, rifamycin)

• Affected patients typically have 2nd condition causing increased bilirubin load
image Examples of additional condition include reduced red blood cell lifespan or impaired hepatic bilirubin uptake


CLINICAL ISSUES


Epidemiology




• Incidence
image Among Caucasians, mutation has frequency of 35-40%

– 11-16% of population homozygous

• Age
image Often diagnosed at puberty, possibly related to increased hemoglobin turnover and inhibition of bilirubin glucuronidation by endogenous steroid hormones

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Apr 20, 2017 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Gilbert Disease

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