New Multidisciplinary Clinic for Wilson Disease Patients at UPMC Provides Comprehensive Care for a Rare Genetic Condition

The Division of Gastroenterology, Hepatology and Nutrition, and the Department of Neurology at UPMC have collaborated to create a multidisciplinary clinic for patients with Wilson disease. The clinic began seeing patients in October 2025. The new Wilson disease clinic is jointly led by co-directors Valerie Suski, DO, associate professor of neurology, division chief, Movement Disorders Division, director, Movement Disorders Fellowship, and director, UPMC Huntington's Disease Society of America Center of Excellence, and Fei-Pi (Phoebe) Lin, MD, clinical assistant professor of medicine, Division of Gastroenterology, Hepatology and Nutrition and an attending physician at the UPMC Center for Liver Care.

About Wilson Disease: A Rare Genetic Condition with Often Confounding Symptoms

Wilson disease is a rare, autosomal recessive genetic disorder that impairs copper metabolism in the liver, affecting multiple organ systems downstream due to excess copper accumulation. Liver disease and neurologic complications are the most common presentations of Wilson disease, but it also can lead to psychiatric and ophthalmologic manifestations, heart arrhythmias, and kidney problems. Diagnosis can occur at any age, but typically occurs in younger patients, from childhood and into the 20s to 40s.

“Wilson disease can be tricky to diagnose because its symptoms are often similar or could be explained by other conditions,” Dr. Lin says. “You can see liver fibrosis or even cirrhosis, movement disorders, and behavioral changes. The presentation is heterogenous, and I’ve often heard from patients that they were diagnosed with something else before the true nature of their condition was worked out.”

If left untreated, undertreated, or is not diagnosed in a timely manner, Wilson disease can cause progressive liver damage and irreversible damage to the central nervous system and other organ systems.

“Neurologically, with excess copper in the system, we can see things like dystonia, tremors, speech or swallowing issues, and problems with balance,” Dr. Suski says. “If we can find it early and treat it aggressively and optimally long term, we can sometimes reverse some of the damage and symptoms patients experience or keep them from happening in the first place.”

Improving Diagnosis and Physician Awareness

Diagnosis of Wilson disease is often delayed because initial symptoms are nonspecific and vary across organ systems. This dynamic can lead to a prolonged diagnostic odyssey before Wilson disease is considered.

“Patients often come in after being told that their symptoms were anxiety or something else entirely,” Dr. Suski says. “By the time they reach us, they can be frustrated because they’ve been searching for answers for a long time.”

Because Wilson disease is autosomal recessive in nature, families are often unaware there is a genetic condition until a child presents clinically. When a young adult presents with tremor, mood changes, or abnormal liver tests, a genetic copper disorder is not always the first thing considered.

“Patients don’t always present the same way, either.” Dr. Lin says. “Some come through liver evaluation, others through neurologic symptoms, and that makes coordinated care important for diagnosis and management. On the liver side, patients with abnormal enzymes undergo evaluation for common causes — viral hepatitis, autoimmune disease, fatty liver. Wilson disease is part of that differential, but because it is rare, it may not be at the top. There is also a small subset of patients whose initial presentation is acute liver failure. In that scenario, transplant evaluation happens quickly. But that is uncommon. Most patients have a more gradual course.”

How the Clinic Functions

The Wilson Disease Clinic at UPMC operates once a month and is structured around the multisystem nature of the disease. In addition to the core team of Dr. Lin and Dr. Suski, additional specialties are incorporated based on individual patient needs, including neuro-ophthalmology, Women’s neurology (for patients who are pregnant), psychiatry, nutrition, genetics, social work, and rehabilitation services.

“Historically, Wilson patients were seen separately — neurology in one clinic, hepatology in another. Many travel long distances. That meant multiple appointments and limited real-time communication,” Dr. Lin says.

The clinic structure allows multiple evaluations to be coordinated during a single visit to streamline care.

“Bringing the specialties together changes the care dynamic for the better. If I am considering a neurologic medication that may have hepatic implications, I can discuss it immediately with Dr. Lin,” Dr. Suski says.

“She may be reviewing fibrosis staging while I am assessing dystonia or tremor. We also learn from each other. I have gained a deeper understanding of hepatic imaging and fibrosis assessment. She sees how certain neurologic symptoms evolve. It creates a shared clinical language around our patients that leads to better coordinated, multidisciplinary care.”

Longitudinal Management and Treatment Options for Wilson Disease

Management of Wilson disease is focused on reducing copper accumulation and preventing further tissue injury. Treatments typically include chelation therapy to remove excess copper, followed by maintenance therapy once disease activity stabilizes. Dietary modification is also an important component of long-term patient outcomes. It requires education and ongoing counseling to limit copper intake to the lowest levels possible.

“We work closely with a dietitian because patients need to understand which foods are higher in copper and how to manage that over time,” Dr. Suski says. “It becomes part of long-term disease management.”

Treatment intensity may vary depending on the patient’s disease activity, laboratory findings, and clinical symptoms. Neurologic and psychiatric manifestations are managed symptomatically when present and often require coordination between specialties, which the clinic can facilitate because of its multidisciplinary approach.

In patients with progressive liver disease, transplantation may become a necessary life-saving option.

“When cirrhosis develops and patients have complications related to liver disease, that’s when transplant becomes part of the discussion,” Dr. Lin says. “Because copper metabolism occurs in the liver, a liver transplant effectively cures the person of Wilson disease, but of course, transplantation itself comes with its own set of risks and possible complications.”

Current available medications for Wilson disease are limited, and access can present practical challenges.

“There are only a few medications available, and insurance approval can be difficult for some individuals,” Dr. Lin says. “As our clinic grows, we hope to make that process more seamless for patients.”

Because of its genetic basis, studies and trials are emerging around the use of gene-editing strategies, including CRISPR-based approaches and antisense oligonucleotide therapies, targeted at correcting the underlying gene mutations, with some currently in early phase development.

“Having a focused, multidisciplinary clinic for Wilson disease and being part of a recognized center will increase the chances that we can offer trials to patients in the future,” Dr. Suski says. “As with all rare disease, multicenter research and trials are essential for making progress and we look forward to engaging in this kind of research in the future.”

An Eye Toward Education and Awareness

A parallel focus of the clinic is improving recognition of Wilson disease among referring physicians.

“Education is a priority for us. If trainees and community physicians can recognize the disease earlier, we can improve outcomes. Even incremental awareness can have a positive ripple effect on patient health,” Dr. Lin says.

Part of the equation is deepening collaborations with other Wilson disease centers in the United States, participating in national meetings, and working together on shared educational initiatives, guidelines, and advocacy.

“It’s pretty straightforward: earlier diagnosis, coordinated care, and effective longitudinal management. That’s what our patients require and that’s how we’ve set up our clinic,” Dr. Suski says.

Patient Referrals and Consultations

Physicians can contact the clinic for patient referrals, diagnostic consultations or additional information. Please contact the Center for Liver Care at 412-647-1170 for referrals to Dr. Lin or 412-692-2286 for referrals to Dr. Suski.