Hereditary Spherocytosis Complicated by Choledocholithiasis: Compounded Hyperbilirubinemia

Abstract

Hereditary Spherocytosis (HS) has an estimated incidence of 1 in 5000 individuals in the United States and is inherited in an autosomal recessive pattern. Hyperbilirubinemia occurs as spherical RBCs are produced, which are culled rapidly from circulation by the spleen and hemolysis occurs, thereby leading to hyperbilirubinemia. Cholelithiasis, which manifests as pigmented bilirubin stones, is a common finding and may be a signal of an RBC disorder in mild HS. The incidence of choledocholithiasis in these patients is unclear. Jaundice can worsen many reasons including fatigue, cold exposure, emotional distress, or pregnancy. We present a case of choledocholithiasis in a patient with complicated HS. Our patient is a 20-year-old female with HS diagnosed as a child. Patient was recommended for splenectomy 4 years prior; however, mother refused due to risk of complications. U/S six years prior was negative for cholelithiasis. Patient presented to the hospital in winter with worsening jaundice, abdominal pain, nausea and vomiting for 5 days. Patient was noted to have an elevated bilirubin of 27.2 on admission, which trended up to 50.4. Fractionated bilirubin showed direct bilirubin of 36.4. Right upper quadrant ultrasound showed cholelithiasis with mildly dilated CBD and no evidence of choledocholithiasis. Given primarily direct hyperbilirubinemia, MRCP was obtained showing dilated CBD to 8mm with a large stone seen in the CBD. ERCP was performed with evidence of a filling defect in the distal CBD. Sphincterotomy with balloon sweeps were performed and yielded a large pigmented stone. Patient bilirubin improved to 17.9 prior to cholecystectomy. Unfortunately, patient had a gastric perforation during splenectomy and cholecystectomy given multiple accessory spleens and complicated surgical procedure and subsequently passed away. Our case is a rare example of complicated HS as splenectomy was previously recommended and is the definitive treatment for HS. Choledocholithiasis in patients with HS has not been clearly defined. One study in India on 70 patients showed that 36.8% of patients with HS diagnosed had cholelithiasis or choledocholithiasis but did not clearly differentiate between the prevalence of choledocholithiasis. Literature review only yielded case reports of choledocholithiasis in patients with HS. Our case serves as an example of the difficulty in diagnosing choledocholithiasis as our patient had multiple risk factors for worsening jaundice.2109_A Figure 1. ERCP demonstrating filling defect at the distal CBD (arrow) suggestive of choledoholithiasis2109_B Figure 2. Endoscopic view during ERCP demonstrating large bilirubin pigmented stone extracted from balloon sweeps