A Rare Case of Primary Sjogren’s Syndrome Coexisting With Gilbert Syndrome

Abstract

Gilbert syndrome (GS) is an autosomal recessive inherited bilirubin metabolism disorder characterized by chronic unconjugated hyperbilirubinemia in the absence of hemolysis and liver disease. Primary Sjogren's syndrome (pSS), mainly occurring in women, is a common connective tissue disease (CTD) wherein bilirubin levels are generally reduced. We report a rare case of pSS coexisting with GS. A 35-year-old female patient presented to our hospital with pSS and chronic unconjugated hyperbilirubinemia, for which low-dose methylprednisolone was ineffective. The patient's liver function test results were normal, serological tests for hepatitis virus were negative, and abdominal ultrasound did not indicate abnormal liver morphology. Bone mineral density determination showed that the Z scores of the left femoral neck and lumbar spine were -1.9 and -2.6, respectively, with T scores of -2.1 and -2.8, respectively. Full-exon sequencing revealed a homozygous TA insertion in the TATA box (A(TA)7TAA) and a heterozygous base substitution from C to A at nucleotide position 686 in exon 1 (c.686C>A) in the uridine glucuronosyltransferase 1A1 (UGT1A1) gene. Therefore, the patient was diagnosed with pSS, GS, and osteoporosis. The dose of methylprednisolone was then reduced and gradually stopped, and treatment for osteoporosis was strengthened. To our knowledge, this is the first report of pSS with GS. It is important to clarify the cause of hyperbilirubinemia in patients with CTD, including pSS, which affects the formulation of correct treatment plans.