Gilbert Disease

Published on 21/04/2017 by admin

Filed under Pathology

Last modified 21/04/2017

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

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