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- Title
A RARE PRESENTATION OF CONJUGATED HYPERBILIRUBINEMIA.
- Authors
Tcaciuc, Eugen; Olaru-Stăvilă, Cătălina; Ouș-Cebotar, Mariana; Tcaciuc, Angela; Harea, Gheorghe
- Abstract
Hyperbilirubinemia is commonly detected in daily clinical practice and for the appropriate treatment, it requires a meticulous evaluation. We present a clinical case of hereditary non-hemolytic conjugated hyperbilirubinemia, specifically, Rotor syndrome to increase awareness of this extremely rare condition. A 42-year-old man was admitted due to asymptomatic intermittent mild jaundice from early childhood, without significant changes in the history of the disease. The physical examination exposed no signs of chronic liver disease, except mild jaundice. Serum total bilirubin was elevated 7.3 mg/dl, with a direct fraction of 4.4 mg/dl, increased bilirubin in urine. Laboratory tests for liver function, viral hepatitis, autoimmune disease, copper, and ceruloplasmin, results of the abdominal ultrasound were within normal range. Normal hepatobiliary and pancreatic system was demonstrated at MRCP. Without other abnormalities found, it was suspected a genetic cause of jaundice, either Rotor or Dubin-Johnson syndrome. Liver biopsy revealed the absence of black pigmentation, which is more characteristic of Rotor, as opposed to Dubin-Johnson. Ultimately to distinguish between the diseases, it was performed a hepatobiliary scintigraphy (HBS) using 150 Mbq of 99mTc intravenously. At HBS, contrast uptake in the liver was faint and severely postponed. Gallbladder was visualized tardily at minute 66 (Norm: 13-15 min) with retention of the radiopharmaceutical in the cardiac blood pool and extended, selective kidney excretion. Sequential static scintigram at 24h after the initial investigation didn't show major changes, suggestive of delayed excretion in the hepatobiliary system. Due to technical problems, an analysis of urinary coproporphyrin and genetic testing wasn't conducted, however, HBS results confirmed the suspicion of Rotor syndrome. Throughout the followup, the patient had a benign clinical course and no complications were detected. Although Rotor syndrome is a rare hereditary condition and often an exclusion diagnosis it is important to take into consideration this disease when evaluating a patient with nonpruritic, asymptomatic jaundice on the account of conjugated bilirubin. In addition, this case illustrates the value and accuracy of hepatobiliary scintigraphy for confirmation and in the differential diagnosis of the illness. Recognition of Rotor syndrome and differentiating it from other conditions has considerable clinical implications, notably for preventing costly, often irrelevant clinical workup and for appropriate counseling of the patient with benign hyperbilirubinemia.
- Publication
Journal of Gastrointestinal & Liver Diseases, 2023, Vol 32, p31
- ISSN
1841-8724
- Publication type
Academic Journal