Case Presentation:

A 30‐year‐old Guatemala‐born man presented with severe, nonradiating epigastric and right upper quadrant abdominal pain, intermittent for the past 2 years, requiring several prior hospitalizations. Pain was accompanied by moderate nausea, vomiting, and his “skin turning yellow.” He also reported several episodes of his 4‐year‐old son turning yellow when sick. Physical examination revealed an afebrile jaundiced young man with scleral icterus, right upper quadrant tenderness, and marked splenomegaly. Laboratory examination revealed microcytic anemia with an elevated reticulocyte count, mean corpuscular hemoglobin concentration, total and direct bilirubin, aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, and lipase.Abloodsmearwas notable for anisocytosis and numerous spherocytes. Right upper quadrant ultrasound showed gallstones with common bile duct dilation. Computed tomography showed massive splenomegaly, gallstones, and obstruction of the common bile duct with evidence of early pancreatitis. The stones were radio‐opaque, suggesting pigment composition. An osmotic fragility test was also positive in both our patient and his son, supporting ourclinical suspicion of hereditary spherocytosis. Laparoscopic cholecystectomy and splenectomy were carried out, and the patient was discharged after 4 days without complications. Follow‐up tests after 2 weeks of surgery revealed that his liver function, lipase, and bilirubin levels had returned to normal ranges.

Figure 1. Peripheral‐blood smear evidence of diffuse spherocytosis.


Hereditary spherocytosis is the most common hemolytic anemia due to red cell membrane defects. It can present with anemia, jaundice, and splenomegaly. Cholelithiasis and choledocholithiasis are common complications, especially in adults with severe hemolytic disease. This case illustrates that hyperbilirubinemia caused by hemolytic anemia can present with signs and symptoms of gallstone pancreatitis. In one prior study, 20 of 54 patients with hereditary spherocytosis developed gallstones over 25 years of follow‐up. Our case highlights the importance of a suggestive family history, which redirected the investigation toward a disease that was relatively unlikely in a Hispanic patient. It has been concluded by some authors that for patients with hereditary spherocytosis, combined prophylactic splenectomy and cholecystectomy may provide a substantial gain in quality‐adjusted life expectancy both for asymptomatic patients younger than age 39 with gallstones and for patients younger than age 52 with gallstones accompanied by occasional episodes of biliary colic.


Patients presenting with hemolytic anemia (jaundice, anemia, and splenomegaly) or pigment gallstones should be investigated for red cell membranopathies. In such instances, a complete family history and peripheral‐blood smear can be enough to yield the diagnosis of hereditary spherocytosis.

Author Disclosure:

H. S. Singh, None; J. Chadha Singh, None; P. J. Rosenthal, None.