# The Importance of Genetic Testing: A Case Report of Wilson's Disease in Two Siblings of a Three-Sibling Family

## TL;DR

This case report shows how genetic testing helped diagnose Wilson's disease in two siblings and guided their treatment, emphasizing its importance for early diagnosis and family risk assessment.

## Contribution

The study highlights the value of genetic testing in diagnosing WD in a consanguineous family with varied symptoms.

## Key findings

- Genetic testing confirmed Wilson's disease in two siblings and ruled it out in the third.
- Early diagnosis through genetic testing improved treatment plans and reduced psychological stress.
- The case underscores the need for a comprehensive approach combining medical and psychological support.

## Abstract

Mutations in the adenosine triphosphatase (ATPase) copper transporting beta (ATP7B) gene result in Wilson's disease (WD), a rare autosomal recessive condition that affects copper metabolism, leading to its accumulation in multiple tissues, including the liver and the brain. This case report details the clinical presentation of three siblings born out of a consanguineous marriage, each displaying different manifestations. The youngest sibling exhibited significant hepatic and neurological symptoms, the middle sibling experienced neuropsychiatric issues, and the eldest one initially showed psychological distress without classic symptoms of WD. Genetic testing confirmed WD in the symptomatic siblings and ruled it out in the eldest, guiding their personalized treatment plans and reducing psychological stress. This case emphasizes the critical role of genetic testing in the early diagnosis, management, and familial risk assessment of WD. Additionally, it highlights the necessity of a comprehensive approach that includes medical, psychological, and social support to enhance the prognosis of the illness.