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

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.

Proton magnetic resonance spectroscopy (1H-MRS) of hippocampus, basal ganglia, and vermis of cerebellum in schizophrenia associated with idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome).

OBJECTIVE: Whether patients with schizophrenia-associated idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome, GS) have specific changes in brain metabolism was examined in this study. METHOD: This study applied proton magnetic resonance spectroscopy (1H-MRS) to the hippocampus, basal ganglia, and vermis of the cerebellum of schizophrenic patients with GS (n=15) or without GS (n=15), all diagnosed according to DSM-IV criteria, and healthy subjects (n=15). RESULTS: In the hippocampus, schizophrenic patients with GS showed a significant decrease of N-acetyl aspartate/creatine-phosphocreatinine (NAA/Cr) and myoinositol/creatine-phosphocreatinine (mI/Cr) ratios compared to healthy subjects and schizophrenic patients without GS, while schizophrenic patients without GS showed only a significant decrease of NAA/Cr compared to healthy subjects. In the basal ganglia, schizophrenic patients with GS showed a significant decrease of ml/Cr compared to schizophrenic patients without GS and healthy subjects, and schizophrenic patients with GS showed a significant decrease of NAA/Cr compared to healthy subjects. In the vermis of the cerebellum, schizophrenic patients with GS showed only a significant decrease of ml/Cr compared to healthy subjects, although schizophrenic patients without GS did not show a significant decrease of ml/Cr compared to healthy subjects. CONCLUSION: The findings suggest that schizophrenia with GS is a more severe sub-type with regard to brain metabolism.