Description

A patient with hemolytic anemia or Gilbert's syndrome is at increased risk for gallstones. The risk is greater if both conditions are present.


 

Gilbert's disease involves mutations in UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1). UGT1A1 helps to convert lipophilic molecules like bilirubin into metabolites that are water-soluble and easier to excrete.

 

Patients homozygous for mutated UGT1A1 TA(7)/TA(7) have a greater risk for gallstones than someone who is heterozygous TA(7)/TA(6), who in turn has a greater risk than the normal TA(6)/TA(6).

 

Examples of hereditary anemias that have occurred in patient's with Gilbert's syndrome:

(1) sickle cell disease (hemoglobin SS)

(2) thalassemia

 

The combination of conditions results in an increased bilirubin load that is difficult to excrete, resulting in hyperbilirubinemia and an increased risk for bile pigment gallstones.

 


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