S3625 The Enigma of Cholestasis in Hereditary Spherocytosis

Introduction: Patients with hemolytic disorders can present with hemolytic crisis or jaundice secondary to the obstruction caused by biliary stones. In the setting of worsening jaundice in such individuals, it is often difficult to differentiate the main culprit behind the pathology. Here, we present 3 cases diagnosed with hereditary spherocytosis, who presented to us with worsening jaundice, the clinical dilemma that ensued, the investigations opted and the treatment provided for the same. Case Description/Methods: Our first case is a 52-year-old man who presented with a history of abdominal pain, following which acute pancreatitis was diagnosed. Liver biochemical tests showed a mixed pattern of jaundice. Magnetic resonance cholangiopancreatography (MRCP) showed moderate splenomegaly with a single calculus in the distal common bile duct. Endoscopic retrograde cholangiopancreatography (ERCP) with stone extraction was done. Post-procedure, there was persistent jaundice. He was worked up for other causes, revealing the diagnosis of Hereditary Spherocytosis, based on increased osmotic fragility, DCT negativity, and excess spherocytes. Genetic mutation studies confirmed the diagnosis. The second case is a 47-year-old man who has had mutation-proven HS since childhood and presented with worsening jaundice and fever. Liver tests showed cholestasis, with magnetic resonance cholangiopancreatography (MRCP) revealing multiple CBD stones and biliary dilatation. Emergency ERCP was performed with stenting. Post ERCP, the patient remained asymptomatic. Next is a 56-year-old man who presented to us with right hypochondrial pain and a mixed pattern of jaundice. Serum LDH was high-normal. MRCP showed a distal common bile duct stricture. ERCP with stenting along with brush cytology was done, which was negative for malignancy. Post-ERCP, bilirubin levels didn’t settle even after 1 month. OGD showed normal bile flow. Repeat LDH showed high value. Further workup was done and revealed a diagnosis of HS. Discussion: In patients with underlying hemolytic disorders, identifying the cause of acute worsening of jaundice if they have a biliary pathology is often difficult. The above-described cases depict different circumstances in which a patient with Hereditary Spherocystosis may present to a gastroenterology clinic. If jaundice isn’t resolved with therapeutic intervention in the setting of biliary obstruction, hemolytic causes should always be ruled out irrespective of the age or pattern of jaundice.