Sammy Saab, MD, MPH, is a professor in the departments of medicine and surgery at the David Geffen School of Medicine at UCLA, medical director of the UCLA Adult Liver Transplant Program, medical director of the Pfleger Liver Institute, and the chief of transplant hepatology.

Sammy Saab, MD, MPH

Unmet Needs in Wilson Disease, with Sammy Saab, MD, MPH

, also known as hepatolenticular degeneration, is a genetic disorder of copper metabolism that leads to the accumulation of copper in the liver and other tissues, including the brain.

With an estimated prevalence of 1 case per 30,000 live births in most populations, Wilson disease is rare but serious, with gradual damage from the accumulation of copper resulting in hepatic, neurologic, and 

 manifestations. With effective treatment options available, early detection and intervention are critical for preventing disease progression, mitigating symptoms, and maintaining quality of life.

In an interview with HCPLive, Sammy Saab, MD, MPH, a professor in the departments of medicine and surgery at the David Geffen School of Medicine at UCLA, medical director of the UCLA Adult Liver Transplant Program, medical director of the Pfleger Liver Institute, and the chief of transplant hepatology, explains unmet needs in Wilson disease, describing how affected patients often present with nonspecific symptoms and are not easily diagnosed due to the need for a combination of laboratory work, genetic testing, urinary testing, and histology to make a diagnosis. He highlights the need for a more simplified approach to identify affected patients.

Saab also calls attention to a current lack of data on long-term Wilson disease management and how to know whether a patient is being over-treated. He notes many patients do not come back for follow-up, which further complicates their disease management.

“We have a long way to go,” Saab said. “We've come a long way with medications, but we still have a way to go in terms of having simplified tests.”

Editors’ note: Saab has relevant disclosures with Gilead Pharmaceuticals, AbbVie, Takeda, Salix, Ipsen, Madrigal, Mallinckrodt, Ipsen, and Cymabay.

UpToDate. Wilson disease: Epidemiology and pathogenesis. Jun 19, 2024. Accessed March 21, 2025. 

https://www.uptodate.com/contents/wilson-disease-epidemiology-and-pathogenesis

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Saab describes historical and ongoing unmet needs in Wilson disease, highlighting recent progress but also the need for a streamlined diagnosis.

Sammy Saab, MD, MPH

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