„Endoskopieren im Steinbruch” – ausgeprägtes Pigmentsteinleiden 6 Wochen post partum

Abstract

A 29-year-old African woman without any history of diseases was referred to our clinic because of recurrent abdominal pain. 6 weeks earlier she had delivered a healthy baby. Laboratory data revealed hypochromic microcytic anemia, elevated cholestatic liver enzymes, and an elevated bilirubin level of 2.2 mg/dl. Abdominal sonography showed choledocholithiasis. The endoscopic retrograde cholangiography showed the presence of more than 100 small stones in the intra- and extrahepatic bile ducts. An endoscopic papillotomy was performed and multiple small black stones were removed from the bile duct by basket into the duodenum. Because of the hypochromic microcytic anemia, the detection of pigment stones and the ethnic background of the patient we suspected a hemoglobinopathy. Hemoglobin electrophoresis showed 97 % HbC. The molecular genetic analysis revealed a homozygous mutation in codon 6 GAG > AAG for the beta globin chain (HbCC). HbC is a structurally abnormal hemoglobin with typical aggregates and tetragonal crystal formation which results in mild chronic hemolytic anemia. The cholezystectomy after 6 weeks was performed without complications.