# Case Report: Genetic testing reveals Wilson disease with familial hypertriglyceridemia in a 12-year-old boy

## TL;DR

A 12-year-old boy was diagnosed with two rare genetic diseases, Wilson disease and familial hypertriglyceridemia, through genetic testing and treated successfully.

## Contribution

This case report highlights the rare comorbidity of Wilson disease and familial hypertriglyceridemia and emphasizes the role of genetic testing in diagnosis.

## Key findings

- The patient had pathogenic mutations in ATP7B and APOA5 genes, confirming Wilson disease and familial hypertriglyceridemia.
- Treatment with copper chelating agents and fibrate drugs improved liver function and lipid levels.
- The case demonstrates the importance of genetic testing in identifying comorbid inherited metabolic disorders.

## Abstract

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.