Mekonnen Sintayehu, Adefris Dereje, Shikuro Belete, Bati Abdi, Azmeraw Daniel, Kassa Temesegen, Teshome Eliud, Farris Hawi
Department of Internal Medicine, All Africa Leprosy, Tuberculosis and Rehabilitation Training Center, Addis Ababa, Ethiopia.
Department of Gastroenterology and Hepatology, Addis Ababa University College of Health Science, Addis Ababa, Ethiopia.
J Med Case Rep. 2024 Dec 4;18(1):583. doi: 10.1186/s13256-024-04872-x.
Hereditary spherocytosis is a rare genetic disorder of the red blood cell membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the diagnosis might not be made until later in life.
Here, we present a challenging case of genetically proven hereditary spherocytosis that involves the SPTB gene in a 23-year-old female patient from Ethiopia who had repeated medical visits for episodic jaundice and hepatosplenomegaly, with unusual features of conjugated hyperbilirubinemia, pancytopenia, normal reticulocyte count, and lack of family history, where the delay in diagnosis led to several complications. The patient was successfully managed with simultaneous splenectomy and cholecystectomy.
This case underscores the importance of a thorough clinical examination, spending the time to review a case periodically without assuming the initial diagnosis is correct, and maintaining a healthy skepticism of inconsistent data to prevent misdiagnosis and mistreatment. The diagnostic delay highlights the need for increased awareness and familiarity with diagnostic modalities of hereditary spherocytosis among healthcare providers in Ethiopia.
遗传性球形红细胞增多症是一种罕见的红细胞膜遗传性疾病，其特征为贫血、黄疸和脾肿大；然而，在没有家族病史且临床表现不典型的情况下，可能直到晚年才会确诊。
在此，我们呈现一例具有挑战性的经基因证实的遗传性球形红细胞增多症病例，该病例涉及一名来自埃塞俄比亚的23岁女性患者的SPTB基因。该患者因间歇性黄疸和肝脾肿大多次就医，具有结合胆红素血症、全血细胞减少、网织红细胞计数正常以及无家族病史等不寻常特征，诊断延迟导致了多种并发症。该患者通过同时进行脾切除术和胆囊切除术得到了成功治疗。
本病例强调了全面临床检查的重要性，要花时间定期复查病例，不要假定初始诊断正确，并对不一致的数据保持合理怀疑，以防止误诊和误治。诊断延迟凸显了埃塞俄比亚医疗服务提供者提高对遗传性球形红细胞增多症诊断方法的认识和熟悉程度的必要性。
