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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
Genetic disorders leading to severe hyperlipidemia in children: A case report
Chun-Xin Jiang, Yu-Lin Meng, Dong Chen, Lian-Ping Shi, Guang Yang, Yang Guo, Bo Zhang, Zi-Chen Zhai, Zhi-Jian Wu, Tie-Nan Liu, Zhi-Jun Wang, Xiao Tian, Peng-Yu Su
Chun-Xin Jiang, Lian-Ping Shi, Guang Yang, Tie-Nan Liu, Zhi-Jun Wang, Peng-Yu Su, Department of Cardiology, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China
Yu-Lin Meng, Health Screening Section, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China
Dong Chen, Yang Guo, Bo Zhang, Zi-Chen Zhai, Zhi-Jian Wu, Nutrition Section, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China
Xiao Tian, Hemodialysis Center, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China
Co-first authors: Chun-Xin Jiang and Yu-Lin Meng.
Author contributions: Su PY, Chen D, and Meng YL designed the research; Jiang CX, Shi LP, Yang G, and Guo Y performed the research; Wang ZJ, Tian X, Liu TN, Zhang B, Zhai ZC, and Wu ZJ collected data; Jiang CX and Su PY analyzed the data and wrote the manuscript.
Supported by Natural Science Foundation of Hebei Province, China, No. H2020209160; Scientific Research Projects in Chinese Medicine of Hebei Province, China, No. 2019168.
Informed consent statement: All study participants and their legal guardians provided informed written consent prior to enrolment in the study.
Conflict-of-interest statement: All the authors report having no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
https://creativecommons.org/Licenses/by-nc/4.0/ Corresponding author: Peng-Yu Su, Department of Cardiology, North China University of Science and Technology Affiliated Hospital, No. 73 South Construction Road, Lubei District, Tangshan 063000, Hebei Province, China.
yezi9725@sina.com
Received: September 24, 2024
Revised: December 24, 2024
Accepted: January 15, 2025
Published online: June 6, 2025
Processing time: 138 Days and 14.8 Hours
BACKGROUND
Alagille syndrome is a rare autosomal dominant genetic disorder involving multiple organ systems. Its most common manifestations are chronic cholestasis caused by intrahepatic bile duct deficiency and severe hypercholesterolemia as a result of impaired cholesterol metabolism. This report describes a patient with Alagille syndrome in whom a JAG1 mutation was detected by whole-exome sequencing.
CASE SUMMARY
The patient presented with severe hypercholesterolemia, biliary and hepatic impairment, pruritus, and triangular facial features. Mutations in the JAG1 gene, which encodes the Notch signaling pathway, were detected by whole-exome sequencing, leading to a diagnosis of Alagille syndrome. The patient was treated using a combination of traditional Chinese and Western medicines. Her cholesterol levels, liver function, and pruritus subsequently improved.
CONCLUSION
The possibility of Alagille syndrome should be considered in children who present with abnormal liver function and severe hypercholesterolemia. Genetic testing is needed to screen for disease-causing mutations and the disease can be treated with Traditional Chinese medicine.
Core Tip: The incidence of Alagille syndrome is a rare disease, and no doctor has ever tried traditional Chinese medicine (TCM) in the treatment of Alagille before, demonstrating the effectiveness of TCM in the treatment of blood lipids. Clinicians need to be careful to ask about the time of onset of the disease when seeing patients, and if they encounter severe hyper lipidaemia they can do genetic testing to rule out inherited metabolic diseases.
