S2717 Sickle Cell Intrahepatic Cholestasis: “A Problem in Disguise”

Abstract

INTRODUCTION: Sickle cell intrahepatic cholestasis (SCIC) is a rare and extreme variant of sickle cell hepatopathy (SCH) observed in patients with homozygous sickle cell disease (SCD). We report an unusual case of a young woman with no prior history of sickle cell crisis. A rapid diagnosis and treatment is vital in reducing mortality in SCIC which was accomplished in our patient. CASE DESCRIPTION/METHODS: A 38-year-old woman presented with two days of ‘pressure-like’ epigastric pain which aggravated with eating. She developed anorexia and noticed dark urine, pale stools, and jaundice one day prior to admission. She denied any confusion, fever, chills, pruritis or bleeding. She denied recent illness, sick contacts, travel, alcohol use, hepatotoxic medicines or illicit drug use. She was diagnosed with SCD at age 30 during her first pregnancy and had never experienced sickle cell crisis. Her parents are known carriers of the sickle cell trait. Physical exam was notable for scleral icterus and epigastric tenderness. Labs were significant for anemia and hyperbilirubinemia with negative hepatitis panel. She continued to deteriorate during the admission with worsening hyperbilirubinemia. MRCP showed hepatomegaly and cholelithiasis without evidence of cholecystitis or choledocholithiasis. She was transferred from a peripheral hospital for ERCP. However, we suspected SCIC and performed EUS guided (trans-gastric) FNA liver cytology. Percutaneous liver biopsy has high mortality. The EUS did not detect any bile duct stones or obstruction. CBD was normal in size. Liver histopathology revealed dilated sinusoids, and foci of centrilobular canalicular cholestasis consistent with SCIC. In view of her worsening condition, exchange transfusion (ET) was performed on the 4th day of hospitalization with dramatic improvement in her symptoms and the labs. DISCUSSION: SCIC is mainly a clinical diagnosis with pronounced hyperbilirubinemia, especially the elevation of direct bilirubin. Our case demonstrated an unusual example of SCIC in a patient with SCD who had never previously experienced any sickle cell crisis. The early diagnosis, supportive care of acute liver failure, and prompt and aggressive ET were keys to the favorable outcome of this patient. The mortality rate in SCIC is almost 40% due to multisystem organ failure. The pathogenesis is multifactorial. The hypoxia due to obstruction of sinusoids by sickled RBCs causes ballooning of hepatocytes and sinusoidal dilatation with bile plugs leading to intracanalicular cholestasis.Figure 1.: Laboratory results during hospital course. ET was done on day 4.