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

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.

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Journal
Cureus
Published
2025-04-26
DOI
https://doi.org/10.7759/cureus.83037
Primary Topic
Trace Elements in Health
Type
article
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article

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

Mutaz Sultan, Robert Mashal, Aseel Faroun, Roua Faroun
Cureus
Trace Elements in Health
article

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

Mutaz Sultan, Robert Mashal, Aseel Faroun, Roua Faroun
article en

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.

CureusVol. 17(4)
Al-Quds University (PS)
Openalex Percentile: Top 90%
Trace Elements in Health
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Acute Deep Vein Thrombosis Presents as an Early Complication of Wilson Disease — Mutaz Sultan, Robert Mashal, et al. · Cureus (2025) | TGRS Research Map | TGRS