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. 2019 Feb 4;19(1):22.
doi: 10.1186/s12876-019-0931-2.

The frequency, clinical course, and health related quality of life in adults with Gilbert's syndrome: a longitudinal study

Sanaa Kamal  1 , Sara Abdelhakam  2 , Dalia Ghoraba  2 , Yasmin Massoud  2 , Kareem Abdel Aziz  2 , Huda Hassan  3 , Tamer Hafez  4 , Ahmed Abdel Sallam  5
Affiliations

The frequency, clinical course, and health related quality of life in adults with Gilbert's syndrome: a longitudinal study

Sanaa Kamal et al. BMC Gastroenterol. .

Abstract

Background: Gilbert syndrome (GS) is an autosomal recessive inherited disorder of bilirubin glucuronidation which has not been investigated in Egypt. This longitudinal study investigated the frequency, clinical course, genetic profile and health related quality of life in Egyptian adults.

Methods: An initial cross-sectional study was conducted to assess the frequency of Gilbert syndrome among Egyptian adults. Subjects fulfilling the criteria of GS were enrolled into the study and prospectively followed for the clinical features, risk factors for hyperbilirubinemia, health related quality of life [Short form-36 Health Survey version 2 (SF-36v2) and Chronic Liver Disease Questionnaire (CLDQ)], vitamins assessment and UGT1A1 polymorphisms.

Results: One hundred and one subjects fulfilled the criteria of GS with a prevalence of 8.016%. Recurrent jaundice was the only presentation in 47 (56.627%) GS subjects and jaundice was associated with abdominal pain, dyspepsia or loss of appetite in 54 (53.465%) subjects. A significant difference in 25-Hydroxyvitamin D3 levels was detected between GS patients and control subjects (P < 00001). Twelve subjects with GS developed significant unconjugated bilirubinemia during direct antiviral therapy (DAAs) therapy for HCV despite achieving sustained virologic response. Pregnancy was associated with significant exacerbation of unconjugated bilirubin which persisted through pregnancy. Risk factors for clinical jaundice included general anesthesia, pregnancy, fasting > 12 h, pregnancy, and low calorie weight losing plans, systemic infections, and intensive physical effort. During jaundice attacks, subjects with GS had significant differences in vitality, role emotional, social functioning, worry and general health domains of the SF-36v2 and CLDQ compared to controls. The homozygous polymorphism A(TA)7TAA was the most frequent polymorphism in Egyptians with GS.

Conclusion: Gilbert syndrome is a frequent inherited disorder in Egypt. In a substantial percentage of subjects with GS, episodes of jaundice are associated with other symptoms and nutritional deficiencies which result in impairment of HRQOL. Screening, counseling, monitoring and individualized health care are recommended for subjects with GS in the setting of anesthesia, pregnancy, treatment with DAAs, deliveries, surgery and weight loss plans.

Keywords: Gilbert syndrome; Health related quality of life; Hyperbilirubinemia; UGT1A1 polymorphisms.

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Conflict of interest statement

Ethics approval and consent to participate

All aspects of this study were approved by University of AIn Shams University and Misr University of Science and Technology Institutional Review Board for human subject research. All patients participating gave written informed consent and authorization for use of data.

No children under the age of 16 were enrolled in the study.

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Correlation of Bilirubin levels (mg/dl) with: (a) 25-hydroxy-Vitamin D3 (ng/mL) and (b) Folic acid levels (ng/mL). Significant correlations was observed between bilirubin levels and each of 25-hydroxy-Vitamin
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