CASE REPORT article
Front. Pediatr.
Sec. Pediatric Gastroenterology, Hepatology and Nutrition
This article is part of the Research TopicCase Reports in Pediatric Gastroenterology, Hepatology, and Nutrition 2025View all 8 articles
Case report: Genetic testing reveals Wilson disease with familial hypertriglyceridemia in a 12-year-old boy
Provisionally accepted
- 1Anhui University of Chinese Medicine, Hefei, China
- 2Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China
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Wilson disease (WD) and familial hypertriglyceridemia (FHTG) are both genetic metabolic diseases, and their comorbidity is extremely rare. This article reports a case of WD with FHTG in a 12-year-old Chinese boy. The patient was diagnosed due to elevated transaminase levels, combined with clinical manifestations, copper metabolism indexes, lipid profile analysis, and genetic testing results (pathogenic mutations of ATP7B and APOA5). The patient was treated using a copper chelating agent to lower copper levels and fibrate drugs to lower lipid levels, which resulted in improvements in his liver function and blood lipid indices. This case serves as a source of reference for the diagnosis and treatment of other similar cases. It not only reveals the potential interaction between copper metabolism disorders and lipid abnormalities, but also highlights the importance of systematic genetic testing to identify comorbid inheritance.
Keywords: Copper metabolism, Familial hypertriglyceridemia, Genetic Testing, Lipid Metabolism, Wilson disease
Received: 08 Dec 2025; Accepted: 11 Feb 2026.
Copyright: © 2026 Wang, Wu, Sun, Wang and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Jiawei Wang
Xun Wang
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