Year: 2025
Type: article
Study design: Case Report
Abstract: Wilson disease (WD) is a rare, autosomal recessive disorder of copper metabolism. Although hepatic and neuropsychiatric manifestations are common, thrombotic events such as deep vein thrombosis (DVT) are exceedingly rare, particularly in pediatric patients. We present the case of an 11-year-old girl diagnosed with WD who developed an acute left upper limb DVT shortly two months after diagnosis. Laboratory and imaging findings confirmed hepatic involvement and coagulopathy. Genetic testing revealed a heterozygous Factor V Leiden mutation and MTHFR heterozygosity; both may have contributed to the thrombotic episode. Careful monitoring of WD was prioritized, and appropriate treatment plans were established during diagnosis to achieve satisfactory outcomes and prevent future thrombotic sequences. This case emphasizes the importance of early recognition of thrombotic complications and coagulopathy management in pediatric WD.
Source: Cureus
DOI: 10.7759/cureus.83037
Authors: Aseel Faroun, Roua Faroun, Rania Mashal, Mutaz Sultan
Institution: Al-Quds University
Language: English
Subfield: Internal Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4409837923