Early Onset Cholelithiasis and Macrocytic Anemia: A Fragile Combination

Abstract

Hemolytic anemia is caused by shortened lifespan of circulating red blood cells (RBCs) due to their premature destruction. Studies have shown that at least 25% of patients with hereditary hemolytic anemia have biliary disease. Early splenectomy is expected to decrease the incidence of gallbladder disease due to decreased activity of the hemolytic process. We present a case report of a patient with early onset symptomatic choledocholithiasis due to undiagnosed hereditary spherocytosis. A 14-year-old female with ADHD presented with two days of progressive right upper quadrant abdominal pain and jaundice. Significant laboratory data included a transaminitis and total bilirubin of 7.7. Right upper quadrant ultrasound revealed gallstones, dilation of the common bile duct (CBD) to 1.3cm, and questionable stone in the distal CBD. Endoscopic retrograde cholangiopancreatography (ERCP) revealed diffuse dilation of the main, right hepatic, and left hepatic bile ducts with largest diameter of 10mm. The lower third of the main bile duct contained one 5mm stone which was removed with biliary sphincterotomy and balloon extraction. Because of jaundice and mild inflammatory distal narrowing, one biliary stent was placed into the CBD. Two days later, the patient underwent cholecystectomy for cholelithiasis and chronic cholecystitis. Elevated reticulocyte distribution width and count, a mean corpuscular volume of 111, and spherocytes on peripheral smear suggested hemolytic disease. Ultimately, the osmotic fragility test returned positive, confirming the diagnosis of early onset cholelithiasis due to hereditary spherocytosis. Though not well established, ERCP is recommended for pediatric patients with symptomatic choledocholithiasis. Hemolytic anemia should be considered in any young person who develops cholelithiasis. When gallbladder disease is noted at time of splenectomy, patients undergo concurrent cholecystectomy, but there is no proven role for prophylactic cholecystectomy. Retrospective studies in adults with hereditary spherocytosis suggest detectable gallstones in 37-43% of patients. Because of the increased incidence of cholelithiasis in hereditary spherocytosis, radiographic gallbladder evaluation is indicated in each patient.2146_A Figure 1 No Caption available.2146_B Figure 2 No Caption available.