Xu Ya-Xin, Niu Xiao-Xuan, Xu Bei-Li, Ji Yuan, Yao Qun-Yan
Department of General Practice, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
Department of Nutrition, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
World J Clin Cases. 2024 Jul 16;12(20):4427-4433. doi: 10.12998/wjcc.v12.i20.4427.
Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive disorder, characterized by episodes of intense pruritus, elevated serum levels of alkaline phosphatase and bilirubin, and near-normal -glutamyl transferase. These episodes may persist for weeks to months before spontaneously resolving, with patients typically remaining asymptomatic between occurrences. Diagnosis entails the evaluation of clinical symptoms and targeted genetic testing. Although BRIC is recognized as a benign genetic disorder, the triggers, particularly psychosocial factors, remain poorly understood.
An 18-year-old Chinese man presented with recurrent jaundice and pruritus after a cold, which was exacerbated by self-medication involving vitamin B and paracetamol. Clinical and laboratory evaluations revealed elevated levels of bilirubin and liver enzymes, in the absence of viral or autoimmune liver disease. Imaging excluded biliary and pancreatic abnormalities, and liver biopsy demonstrated centrilobular cholestasis, culminating in a BRIC diagnosis confirmed by the identification of a novel gene mutation. Psychological assessment of the patient unveiled stress attributable to academic and familial pressures, regarded as potential triggers for BRIC. Initial relief was observed with ursodeoxycholic acid and cetirizine, followed by an adjustment of the treatment regimen in response to elevated liver enzymes. The patient's condition significantly improved following a stress-related episode, thanks to a comprehensive management approach that included psychosocial support and medical treatment.
Our research highlights genetic and psychosocial influences on BRIC, emphasizing integrated diagnostic and management strategies.
良性复发性肝内胆汁淤积症（BRIC）是一种罕见的常染色体隐性疾病，其特征为剧烈瘙痒发作、血清碱性磷酸酶和胆红素水平升高，以及γ-谷氨酰转移酶接近正常。这些发作可能持续数周或数月后自行缓解，患者在发作间期通常无症状。诊断需要评估临床症状并进行针对性基因检测。尽管BRIC被认为是一种良性遗传病，但其触发因素，尤其是心理社会因素，仍知之甚少。
一名18岁中国男性在感冒后出现反复黄疸和瘙痒，自行服用维生素B和对乙酰氨基酚后病情加重。临床和实验室评估显示胆红素和肝酶水平升高，排除了病毒性或自身免疫性肝病。影像学检查排除了胆道和胰腺异常，肝活检显示小叶中心性胆汁淤积，最终通过鉴定一种新的基因突变确诊为BRIC。对患者的心理评估发现，学业和家庭压力导致的应激被认为是BRIC的潜在触发因素。熊去氧胆酸和西替利嗪治疗后症状初步缓解，随后根据肝酶升高情况调整治疗方案。在一次与应激相关的发作后，由于采取了包括心理社会支持和药物治疗在内的综合管理方法，患者病情显著改善。
我们的研究强调了基因和心理社会因素对BRIC的影响，强调了综合诊断和管理策略。
