# Acute Deep Vein Thrombosis Presents as an Early Complication of Wilson Disease

## TL;DR

A young girl with Wilson disease developed a rare blood clot in her arm, highlighting the need to monitor for such complications in children with this condition.

## Contribution

This case report highlights an unusual early complication of Wilson disease in a pediatric patient.

## Key findings

- An 11-year-old girl with Wilson disease developed acute deep vein thrombosis two months after diagnosis.
- Coagulopathy and genetic factors like Factor V Leiden and MTHFR mutations may contribute to thrombotic events in WD.
- Early recognition and management of coagulopathy are crucial for preventing future thrombotic episodes in pediatric WD.

## 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.