Background: Hereditary spherocytosis (HS) is not a rare disease in the department of hematology; however, in the late stage of the disease, patients often have very severe cholestasis and are referred to the department of hepatology. Hepatologists may have trouble determining the source of cholestasis, causing treatment difficulties.
Case Description: We report two 20-year-old patients complaining of "skin and eyes turned to yellow". Patient 1 had no previous hematologic disorders, and patient 2 had a history of anemia without treatment. Laboratory tests suggested anemia and elevated bilirubin in both patients. The direct bilirubin levels were more significantly elevated than the indirect bilirubin levels in both patients, and the patients both suffered from abdominal pain and pancreatitis. However, the degree of anemia could not fully explain the jaundice. Magnetic resonance imaging findings suggested the presence of hepatosplenomegaly and gallstones. Genetic testing identified new mutations in the relevant genes, ultimately confirming the diagnosis of HS. The liver biopsy results for both patients showed obvious intrahepatic cholestasis. Patient 1 underwent splenectomy at a bilirubin level of 125.4 µmol/L, and the bilirubin level returned to normal after surgery, with a good prognosis. However, Patient 2 suffered from pancreatitis during hospitalization and was unable to undergo splenectomy. Endoscopic retrograde cholangiopancreatography was implemented, but the bilirubin level continued to rise, and Patient 2 ultimately gave up treatment and passed away.
Conclusions: For hepatologists, identifying the source of jaundice (hemolysis, hepatocyte destruction, or biliary obstruction) is important for treatment, supplemented by liver biopsy and genetic testing if necessary. In the 2 cases covered in this article, early-stage HS caused hemolytic jaundice with predominantly elevated indirect bilirubin, and as the disease progressed, patients developed severe cholestasis probably related to transient biliary obstruction caused by gallstones and hepatocellular injury due to abnormal bilirubin metabolism. In addition, in patients with HS combined by intrahepatic cholestasis, early consideration of splenectomy may delay disease progression and achieve a better prognosis. Of course, this conclusion needs to be confirmed by more clinical studies.
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http://dx.doi.org/10.21037/atm-22-5076 | DOI Listing |
Biochim Biophys Acta Mol Basis Dis
December 2024
The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China; Shanghai Key Laboratory of Birth Defect, Shanghai 201102, China. Electronic address:
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January 2025
Department of Biomedical and Pharmaceutical Sciences, College of Pharmacy, University of Rhode Island, Kingston, Rhode Island, USA.
Cureus
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Department of Gastroenterology, Topiwala National Medical College & BYL Nair Charitable Hospital, Mumbai, IND.
A 12-year-old female, resident of western India, presented with a history of pruritus associated with jaundice for two months. On presentation, she had icterus with mild palpable hepatomegaly. Investigations revealed direct hyperbilirubinemia and elevated transaminases, while gamma-glutamyl transferase levels were normal.
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December 2024
Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy.
Physiol Rep
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Department of Women and Children's Health, Guy's Campus, King's College London, London, UK.
Women with intrahepatic cholestasis of pregnancy (ICP) have hypercholanemia alongside an increased risk of dyslipidemia. We investigated how cholic acid (CA) supplementation in murine pregnancy impacts adipose tissue function. Mice were fed normal or 0.
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