S2625 Sickle Cell Intrahepatic Cholestasis

Abstract

INTRODUCTION: Sickle Cell Disease (SCD) is a common autosomal recessive disorder among the African American community. While the most severe complications typically include pneumonia, stroke, and acute chest syndrome, in very rare cases it leads to Sickle Cell Intrahepatic Cholestasis (SCIC). This is an unusual case presentation which discusses the importance of early recognition of acute liver failure in a patient with suspected SCIC and the need to have a wide differential for elevated liver function tests. CASE DESCRIPTION/METHODS: A 24-year-old female with a past medical history of sickle cell disease presented from her hepatologist's office with jaundice, scleral icterus, and malaise. Two months prior, the patient had been discharged for a sickle cell crisis that required an exchange transfusion. Her initial lab work revealed profound hyperbilirubinemia of 43.4 mg/dL (cutoff 0.8 mg/dL), 29.9 direct (cutoff 0.4 mg/dL), and a reticulocyte count of 7.3% (cutoff 1.5%). Her initial MELD score was 38 and she was admitted to the ICU. A CT of the abdomen was remarkable for hepatomegaly and abdominal ascites. She was given lactulose along with supportive care and plasmapheresis. The patient gradually improved with exchange transfusions and by day 4, her total bilirubin had declined to 18 mg/dL. Unfortunately, despite acknowledging the severity of her illness, the patient has a long history of non-compliance and she was subsequently lost to follow up. DISCUSSION: SCIC is a rare disease process with an extensive literature review finding less than 10 prior cases. While the pathophysiology is not well understood, it is believed to be related to ischemic injury as a result of recurrent vascular obstruction and repair arising as a component of sickle cell disease. A potentially fatal sequela of this is cholestatic liver failure. While case reports are limited, they have all shown the benefit of treatment with early plasmapheresis. Only two cases of liver transplantation from SCIC exist in literature, and both ended in patient fatality. The thought process is transplantation for sickle cell disease involving the liver may carry a high risk of graft loss and death due to vascular problems. There has been a case report of a 15-year-old with SCIC who underwent chronic transfusions to halt his liver disease from progressing. When he stopped transfusions after a year, he went into acute liver failure. While only one case report, it serves to question whether these patients should be placed on chronic exchange therapy.