Asogwa Promise Udoka, Basil Bruno, Adiri Winifred Njideka, Ugwu Nelson, Anigbo Gideon Ekene, Offia Evaristus, Orjioke Casmir
Gastroenterology Unit, Enugu State University of Science and Technology, Parklane, Enugu, Nigeria.
Department of Internal Medicine, College of Medical Sciences, Enugu Campus, Enugu, Nigeria.
J Med Case Rep. 2025 Jan 24;19(1):34. doi: 10.1186/s13256-025-05051-2.
Autoimmune hepatitis is a chronic liver disease marked by immune-mediated inflammation, necrosis, and the potential to progress to cirrhosis if not treated. This case report presents a rare and atypical presentation of autoimmune hepatitis in a Nigerian adolescent girl, highlighting diagnostic challenges in resource-limited settings. The case is unique owing to the absence of jaundice, a common symptom of liver dysfunction, and features such as delayed menarche and bilateral leg swelling. Case presentation The patient was a 16-year-old Black female patient of Igbo ethnicity from Nigeria, who presented with a 6-month history of bilateral leg swelling and delayed menarche. She had no history of jaundice and abdominal pain, and she had no significant past medical history. She was initially misdiagnosed, delaying appropriate management. Following a comprehensive diagnostic workup, including liver function tests, imaging, and autoantibody testing, which were positive for antinuclear and antismooth muscle antibodies, she was correctly diagnosed with type 1 autoimmune hepatitis. Treatment was initiated with corticosteroids (prednisolone) and azathioprine, which resulted in clinical improvement. However, her serum albumin levels remained low as a result of the preexisting cirrhosis.
This case highlights the diagnostic challenges of autoimmune hepatitis in adolescents, particularly in regions where infectious liver diseases are more commonly suspected. It emphasizes the need for increased awareness and better diagnostic resources to improve early detection and management of autoimmune hepatitis in sub-Saharan Africa. Early intervention with immunosuppressive therapy is essential, even in the absence of classic liver-related symptoms, to prevent progression to advanced liver disease.
自身免疫性肝炎是一种慢性肝脏疾病，其特征为免疫介导的炎症、坏死，若不治疗有发展为肝硬化的可能。本病例报告呈现了一名尼日利亚青春期女孩罕见且非典型的自身免疫性肝炎表现，突显了资源有限环境下的诊断挑战。该病例独特之处在于缺乏肝功能障碍的常见症状黄疸，以及初潮延迟和双侧腿部肿胀等特征。
患者为一名16岁的尼日利亚伊博族黑人女性，有6个月双侧腿部肿胀和初潮延迟的病史。她无黄疸和腹痛病史，既往也无重大病史。她最初被误诊，延误了恰当的治疗。经过包括肝功能检查、影像学检查和自身抗体检测在内的全面诊断检查，抗核抗体和抗平滑肌抗体呈阳性，她被正确诊断为1型自身免疫性肝炎。开始使用皮质类固醇（泼尼松龙）和硫唑嘌呤进行治疗，临床症状有所改善。然而，由于先前存在的肝硬化，她的血清白蛋白水平仍然很低。
本病例突显了青少年自身免疫性肝炎的诊断挑战，尤其是在更常怀疑感染性肝病的地区。它强调需要提高认识并提供更好的诊断资源，以改善撒哈拉以南非洲地区自身免疫性肝炎的早期检测和管理。即使没有典型的肝脏相关症状，早期进行免疫抑制治疗对于预防进展为晚期肝病也至关重要。
