Kheyami Maryam A, Almahroos Fatin R, Alzamrooni Alaa M, Khamis Jawad, Albaharna Ali
Gastroenterology and Hepatology, Salmaniya Medical Complex, Manama, BHR.
Internal Medicine, Salmaniya Medical Complex, Manama, BHR.
Cureus. 2024 Dec 2;16(12):e74962. doi: 10.7759/cureus.74962. eCollection 2024 Dec.
Autoimmune hepatitis-systemic lupus erythematosus (AIH-SLE) overlap syndrome is a rare disease entity. In some cases, a delay in the occurrence of overlap is observed, where the diagnosis of one of the conditions precedes the other. However, other patients have features of both disorders simultaneously upon initial presentation, leading to a direct diagnosis of AIH-SLE overlap syndrome. Thus, the highly variable and non-specific clinical presentations of AIH-SLE overlap syndrome pose a diagnostic challenge that can only be overcome by maintaining a high index of suspicion. The best clinical practice involves the consideration of a wide list of differential diagnoses for each case, tailored toward its unique combination of symptoms and clinical findings. Although challenging, the timely establishment of an accurate diagnosis is crucial as even the etiologies sharing similar autoimmune pathophysiology demonstrate varying responses to the different therapeutic agents. This case report summarizes seven years of a middle-aged female's disease course, starting with her initial presentation, leading to her diagnosis with AIH, moving on to the establishment of overlap with SLE, and monitoring her response to the various treatment regimens she followed over the years. Despite trials of several recommended treatment regimens, the patient did not meet the requirements of remission for either AIH or SLE until the end of this observatory period. For the next steps in her management, several biological agents are under consideration as the existing scientific literature lacks recommendations specific to AIH-SLE overlap syndrome. This case report is intended to enrich the limited scientific literature pertaining to AIH-SLE overlap syndrome by documentation of this patient's individual disease course and review of the existing literature.
自身免疫性肝炎-系统性红斑狼疮(AIH-SLE)重叠综合征是一种罕见的疾病实体。在某些情况下,会观察到重叠情况出现延迟,即其中一种疾病的诊断先于另一种疾病。然而,其他患者在初次就诊时就同时具有两种疾病的特征,从而直接诊断为AIH-SLE重叠综合征。因此,AIH-SLE重叠综合征高度可变且非特异性的临床表现带来了诊断挑战,只有保持高度的怀疑指数才能克服这一挑战。最佳临床实践包括针对每个病例考虑广泛的鉴别诊断清单,根据其独特的症状和临床发现组合进行调整。尽管具有挑战性,但及时确立准确诊断至关重要,因为即使是具有相似自身免疫病理生理学的病因,对不同治疗药物的反应也有所不同。本病例报告总结了一名中年女性七年的病程,从她的初次就诊开始,到诊断为AIH,再到确定与SLE重叠,并监测她对多年来所采用的各种治疗方案的反应。尽管尝试了几种推荐的治疗方案,但在这个观察期结束时,该患者对于AIH或SLE均未达到缓解要求。对于她下一步的治疗管理,由于现有科学文献缺乏针对AIH-SLE重叠综合征的具体建议,正在考虑几种生物制剂。本病例报告旨在通过记录该患者的个体病程并回顾现有文献,丰富与AIH-SLE重叠综合征相关的有限科学文献。