scholarly journals GALLSTONE DISEASE WITH UNCONJUGATED HYPERBILIRUBINEMIA: CLINICAL APPROACH TO GILBERT’S SYNDROME

2019 ◽  
Vol 6 (2) ◽  
Author(s):  
Suneed Kumar ◽  
Sneha Jha ◽  
Anshuman Pandey ◽  
Shibumon M Madhavan ◽  
Dinesh Kumar ◽  
...  

Gallstones are the commonest ailment affecting the hepato-biliary system. Associated jaundice is usually direct, commonly due to biliary obstructive lesions. Unconjugated hyperbilirubinemia with cholelithiasis is commonly seen with hemolytic disease. In the absence of hemolysis or systemic causes, congenital causes prevail, commonest of which is Gilbert’ Syndrome. This study aims to ascertain a clinical approach to the patient of gallstones with Gilbert’s syndrome. This is retrospective study of 58 patients with gallstone associated unconjugated hyperbilirubinemia, who underwent surgery over a two-year period. Patients underwent repeat blood investigations and ultrasound to confirm the diagnosis. Obstructive biliary pathology was ruled out by MRCP images; EUS added if indicated. The remaining patients underwent genetic test for Gilbert’s syndrome – namely UGT1A1 gene assessment by PCR. All patients underwent laparoscopic cholecystectomy as routine; with addition of intra-operative liver biopsy. Sixteen of the 58 patients were short-listed to be high risk factors for harboring Gilbert’s syndrome after ruling out other systemic causes. On gene study, 14 patients tested positive for UGT1A1 gene, hence Gilbert’s syndrome. The other two were kept on follow up for jaundice recurrence in future. The management algorithm is depicted as flowchart. Gilbert’s syndrome can be identified in select “high-risk” individuals presenting with gallstone disease. Genetic testing is gold standard, and helps in effective management and better patient counselling.

2021 ◽  
Vol 6 (2) ◽  
pp. 75-81
Author(s):  
A. N. Volkov ◽  
E. V. Tsurkan

Aim. To analyze age and gender distribution in patients with Gilbert's syndrome.Materials and Methods. We consecutively recruited 115 patients with Gilbert's syndrome. All patients underwent genotyping of the rs8175347 polymorphism within the UGT1A1 gene using allele-specific polymerase chain reaction to confirm the diagnosis.Results. The age of initial diagnosis ranged from 3 years to 71 years, with the majority (44.3%) of cases detected ≤ 20 years of age. Mean ± standard error and median age of the diagnosis were 30.03 ± 1.72 years and 23 years. Despite the proportion of females and males among patients was similar, age distribution at primary diagnosis was significantly different across the genders. In women, Gilbert's syndrome was most frequently detected between 11 and 20 years (23.1%) and between 51 and 60 years (19.2%). In contrast, male adolescents were more prone to the development of Gilbert's syndrome, as 47.6% of male patients belonged to this age category.Conclusions. Variable age of Gilbert's syndrome diagnosis is probably determined by an individual combination of genetic causes (e.g., mutation of the UGT1A1 gene) and additional risk factors. Adolescents compose a significant proportion of patients. Because of relatively mild disease in many patients and unpredictability of the provoking factors, primary detection of Gilbert's syndrome can be delayed. Differences in age of Gilbert's syndrome diagnosis across the genders can be partially explained by organizational reasons associated with the current screening programs. 


1985 ◽  
Vol 66 (3) ◽  
pp. 212-215
Author(s):  
M. M. Eseleev ◽  
P. G. Scepuro

Until now, the diagnosis of unconjugated hyperbilirubinemia presents certain difficulties, which is to a certain extent related to the lack of awareness among doctors of a wide medical network [1, 2, 4, 8].


2003 ◽  
Vol 7 (3) ◽  
pp. 199-203 ◽  
Author(s):  
Tsuyoshi Miyaoka ◽  
Rei Yasukawa ◽  
Sohichi Mizuno ◽  
Tsuruhei Sukegawa ◽  
Takuji Inagaki ◽  
...  

2005 ◽  
Vol 20 (4) ◽  
pp. 327-331 ◽  
Author(s):  
Tsuyoshi Miyaoka ◽  
Rei Yasukawa ◽  
Takumi Mihara ◽  
Shoichi Mizuno ◽  
Hideaki Yasuda ◽  
...  

AbstractBackgroundPatients with schizophrenia show a significantly higher frequency of hyperbilirubinemia the patients suffering from other psychiatric disorders and the general healthy population. The objective of the current study was to determine whether patients with schizophrenia-associated idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome, GS) have specific changes in signal intensities on fluid-attenuated inversion-recovery (FLAIR) magnetic resonance (MR) images.MethodsAxial 5-mm-thick FLAIR MR images from schizophrenia patients with GS (n = 18) and schizophrenia patients without GS (n = 18), all diagnosed according to DSM-IV criteria, were compared with age- and sex-matched non-psychiatric controls (n = 18). Signal intensities in the hippocampus, amygdala, caudate, putamen, thalamus, cingulate gyrus, and insula were graded relative to cortical signal intensity in the frontal lobe.ResultsCompared to both schizophrenia patients without GS and normal controls, the schizophrenia patients with GS showed significantly increased signal intensities in almost all regions studied.ConclusionPatients with schizophrenia-associated GS have specific changes of signal intensities on FLAIR MR images, suggesting that schizophrenia with GS produces changes in the fronto-temporal cortex, limbic system, and basal ganglia.


1967 ◽  
Vol 277 (21) ◽  
pp. 1108-1112 ◽  
Author(s):  
L. W. Powell ◽  
Elaine Hemingway ◽  
Barbara H. Billing ◽  
Sheila Sherlock

Sign in / Sign up

Export Citation Format

Share Document