Gilbert综合征共患遗传性球形红细胞增多症行腹腔镜下脾切除术一例OA

To report a case with Gilbert syndrome(GS)coexisting with hereditary spherocytosis(HS)who was treated with laparoscopic total splenectomy,and to discuss the clinical characteristics and key points of diagnosis and management.A 31-year-old female patient presented with the chief complaint of"aundice for over 20 years".The patient had a long history of recurrent,severe jaundice accompanied by hemolytic anemia.Abdominal ultrasound revealed splenomegaly(maximum diameter 21.74 cm).Genetic testing confirmed the diagnosis of GS coexisting with HS.Genetic sequencing identified a frameshift variant in the SPTA1 gene,an intronic variant in the SPTB gene,and a microdeletion in the MMACHC gene,supporting the HS diagnosis.Whole-exome sequencing of the UGT1A1 gene revealed multiple variant sites,consistent with GS.Due to symptomatic massive splenomegaly and progressive anemia,laparoscopic total splenectomy was performed after the exclusion of surgical and anesthetic contraindications.Postoperatively,the patient's red blood cell count,hemoglobin,total bilirubin,and indirect bilirubin levels improved significantly.The patient was discharged on postoperative day 6 without complications.The co-occurrence of GS and HS is relatively rare,characterized clinically by severe jaundice with only mild anemia.For patients complicated with massive splenomegaly,total splenectomy is an effective treatment option,which can rapidly relieve compressive symptoms,correct anemia,and reduce bilirubin levels.Postoperative management should focus on platelet monitoring,thrombosis prevention,and infection control.