Addressing Diagnostic Challenges in Wilson Disease

In 'Addressing Diagnostic Challenges in Wilson Disease,' our panel delves into the complexities of clinical recognition and the high stakes of early intervention. Dr. Peter Hedera identifies Wilson disease as a "great masquerader" due to its nonspecific and protean presentations, such as isolated tremors or parkinsonism, which can lead to significant diagnostic delays. The panel emphasizes that maintaining a high index of suspicion is vital, particularly in patients under age 40, though atypical presentations in older adults must not be entirely ignored.

A primary focus of this episode is the protocol for sibling screening. Given the one-in-four risk for siblings of a diagnosed patient, the experts describe it as a physician's duty to facilitate testing for these family members. The discussion compares the utility of 24-hour urine copper assays and ceruloplasmin levels against the increasing accessibility of genetic testing. While biochemical proof of copper overload remains the "gold standard" for adult patients, Dr. Fawaz notes that in children, 24-hour urine collections may be less reliable or harder to obtain, making targeted genetic testing for the ATP7B mutation even more valuable.

The panelists also address the practical hurdles of modern diagnosis, specifically insurance coverage for genetic testing and the challenge of interpreting variants of unknown significance. They highlight the importance of the Leipzig score, where a definitive genetic diagnosis can provide the necessary points for clinical confirmation. The episode concludes with a call for better advocacy toward insurance providers, reinforcing that early genetic and biochemical screening can save lives by identifying the disease in a pre-symptomatic state.

Our next episode, 'Impact of Early Diagnosis on Disease Progression and Quality of Life in Wilson Disease,' further explores Wilson disease, highlighting the critical window of opportunity for intervention to prevent irreversible organ damage. The experts discuss the transformative potential of newborn screening and the profound impact that early diagnosis has on long-term patient outcomes and daily functioning.

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Learn how Leipzig scoring and genetic testing, plus labs and eye exams, help diagnose pediatric Wilson disease when symptoms are subtle.

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Mark G. Lebwohl, MD, the dean for Clinical Therapeutics at the Icahn School of Medicine at Mount Sinai,

Integrating TYK2 Inhibitors into the Psoriasis Treatment Algorithm

In ‘Integrating TYK2 Inhibitors into the Psoriasis Treatment Algorithm,’ our panel explores how the emergence of TYK2 inhibitors has reshaped the traditional hierarchy of psoriasis care. Dr. Mark Lebwohl explains that while he rarely utilizes older TNF blockers due to their boxed warnings for cancer and infection, he views newer IL-17 and IL-23 blockers as highly effective standards of care. He notes that the choice between a TYK2 inhibitor and a biologic often centers on patient preference for a daily oral pill versus an injection every few months. Dr. Lebwohl acknowledges that while some biologics may peak faster than oral agents, TYK2 inhibitors offer a remarkably safe profile that avoids the yeast infection risks associated with IL-17 inhibitors.

The experts also delve into advanced management strategies, including the off-label use of deucravacitinib in combination with biologics. Dr. Lebwohl references published data showing that patients who failed to reach "treat to target" goals on a single agent experienced significant improvement when a TYK2 inhibitor was added. Dr. Tina Bhutani-Jacques agrees, noting that she often employs combination therapy for complex cases involving both skin and psoriatic arthritis where monotherapy proves insufficient. Furthermore, the discussion touches on the expanding pipeline of oral therapies, including envudeucitinib, which recently reported phase 3 results. The panelists emphasize that having a variety of available TYK2 inhibitors is essential for clinical practice, likening the need for multiple options to having a diverse range of antibiotics to ensure every patient can find a successful long-term treatment.

Our next episode, ‘Potential Therapeutic Opportunities of TYK2 Therapy Beyond Psoriasis and Identifying the Ideal Patient,’ features the panelists discussing the long-term systemic benefits of reducing inflammation and the promising future of TYK2 inhibitors for comorbidities. Dr. Bhutani-Jacques and Dr. Lebwohl also identify key patient profiles, such as those with needle phobia or active lifestyles, who benefit most from oral treatment options.

Experts explain how deucravacitinib eases psoriasis itch fast, boosts quality of life, and why TB testing and boxed warnings matter.

Navigating the Differential: When EPI Looks Like Something Else

With diagnosis in sight, this episode addresses the important challenge of differential diagnosis and the conditions that can masquerade as or coexist with EPI. The panelists approach this from two angles: conditions that may be concomitant with EPI, and conditions that may be the true primary diagnosis in a patient with EPI-like symptoms.

Jennifer Geremia distinguishes between new patients presenting with postprandial symptoms—where the differential is broad and may require blood testing, stool testing, and endoscopy—and patients with known EPI-associated conditions (e.g., well-controlled celiac disease still symptomatic, IBD, post-gastric bypass) where EPI is one of several conditions potentially at play. Sarah Enslin highlights irritable bowel syndrome (diarrhea-predominant), small bowel Crohn's disease, and any condition involving abdominal bloating and diarrhea as key mimickers that require careful differentiation.

The panel recommends a personalized, stepwise diagnostic strategy. For patients with alarm features or family history warranting endoscopic evaluation, appropriate endoscopy should be prioritized. However, unnecessary testing should be avoided—if symptoms are not postprandial or clearly linked to meals, ordering a fecal elastase in a patient with likely IBS may yield low utility. The key is tailoring the diagnostic sequence to the individual presentation.

A particularly important clinical pearl is raised about prior testing: in referral center practice, patients often arrive having already undergone multiple scopes, CT scans, and bloodwork. Systematically reviewing prior testing avoids unnecessary duplication, saves costs, and ensures meaningful incremental workup rather than repeated baseline evaluation. This 'chronology first' approach is presented as a practical strategy for experienced clinicians and trainees alike.

Putting PROs to Work: The PEIQ and Symptom Scores in EPI Management

," the discussion examines how validated patient-reported outcome tools like the PEIQ can be integrated into clinical practice to guide diagnosis, treatment adjustment, and monitoring.

Learn a stepwise approach to evaluating EPI-like diarrhea—history, alarm features, fecal elastase and imaging—to rule out IBS, celiac, IBD.

Patient-Reported Outcomes and Safety of TYK2 Inhibitors in Psoriasis

In this episode, ‘Patient-Reported Outcomes and Safety of TYK2 Inhibitors in Psoriasis,’ the expert dermatologists explore how therapeutic success is measured beyond objective skin scores. Dr. Mark Lebwohl explains that patient-reported outcomes, particularly the reduction of itch, often improve more rapidly than physical plaques and correlate directly with overall quality of life. Dr. Tina Bhutani-Jacques emphasizes that for patients, the subjective experience of how they feel is often the most critical factor in treatment satisfaction.

The conversation shifts to the practicalities of patient communication regarding safety. Dr. Lebwohl details his approach to explaining the difference between TYK2 inhibitors and traditional JAK inhibitors, noting that he does not burden patients with the boxed warnings associated with JAKs because TYK2 inhibitors lack those specific risks. He stresses that while baseline blood work is a good practice for general health monitoring, TYK2 inhibitors are remarkably safe and do not typically require ongoing laboratory surveillance.

The experts also dive into the debate over mandatory tuberculosis (TB) testing. Dr. Lebwohl discusses a recent critical statement regarding the potential to remove TB screening requirements for certain classes of psoriasis medications, such as IL-17 and IL-23 blockers, which have not shown a signal for TB reactivation. He shares a personal anecdote about the toxicity of TB prophylaxis to highlight why avoiding unnecessary testing in low-endemic areas like the United States could prevent patient harm. Dr. Bhutani-Jacques concludes by praising these advocacy efforts, noting that reducing such barriers represents a significant step toward streamlining real world psoriasis management.

The next episode in this series, ‘Integrating TYK2 Inhibitors into the Psoriasis Treatment Algorithm,’ features the panelists comparing the safety and efficacy of oral TYK2 inhibitors against modern biologics. Dr. Bhutani-Jacques and Dr. Lebwohl discuss the clinical decision-making process for switching therapies and the potential for off-label combination strategies to achieve total skin clearance.

New oral psoriasis therapy delivers biologic-level skin clearance in tough patients, with PASI 100 rising to 42% by week 24.

Multidisciplinary Collaboration and Diagnostic Frameworks in Wilson Disease

In this episode, 'Multidisciplinary Collaboration and Diagnostic Frameworks in Wilson Disease,' the panelists explore the complex coordination required to manage this multi-organ condition. Dr. Rima Fawaz describes the multidisciplinary model used at the Yale Wilson Disease Registry, which integrates specialists from neurology, psychiatry, nutrition, and radiology to provide comprehensive care. This collaborative framework is essential because Wilson disease often presents as a "clinician's diagnosis," where no single test is universally definitive.

The experts delve into the utility of the Leipzig score, a weighted diagnostic tool that aggregates findings from ceruloplasmin levels, 24-hour urine copper collections, and clinical markers. A significant portion of the discussion focuses on the "new era" of genetic testing. Dr. Fawaz notes that next-generation sequencing is increasingly used for patients with unexplained liver enzyme elevations and for targeted sibling screening. In pediatric populations under age five, genetic testing is often the primary way to reach the required Leipzig score threshold, as other markers like urine copper may not yet be significantly elevated.

The panel also reviews the role of ophthalmologic findings, specifically Kayser-Fleischer (KF) rings. While historically viewed as a "window into the brain" and highly correlated with neurological symptoms, these copper deposits are found in only about 20% of pediatric registry patients and are nearly absent in children under 10. The experts emphasize that while KF rings are a classic sign that typically resolves with treatment, their absence does not rule out the disease. The episode concludes by reinforcing that clinicians must recognize patterns across laboratory, genetic, and physical findings to ensure an accurate diagnosis.

The next episode in this series, 'Addressing Diagnostic Challenges in Wilson Disease,' features the panelists advancing their conversation on Wilson disease and focusing on the common factors that contribute to misdiagnosis and delayed clinical recognition. Dr. Peter Hedera and Dr. Rima Fawaz outline the critical necessity of screening siblings of a diagnosed proband and discuss the evolving role of biochemical and genetic testing in identifying asymptomatic cases.

Learn how subtle liver labs and movement changes trigger early Wilson disease testing, from newborn screening to MRI and copper assays.

Learn how primary care, APPs, and specialists collaborate to spot symptoms, refer fast, and follow guidelines for accurate GI diagnosis.

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Abigail Brooks is an assistant managing editor for 

She joined MJH Life Sciences in August 2023 shortly after graduating from Monmouth University where she earned her BA in Communication with a concentration in Public Relations/Journalism and later an MA in Interactive Digital Media. She enjoys traveling, running, and reading books. She can be reached at abrooks@mjhlifesciences.com.

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Latest News

Addressing Diagnostic Challenges in Wilson Disease

Integrating TYK2 Inhibitors into the Psoriasis Treatment Algorithm

Navigating the Differential: When EPI Looks Like Something Else

Patient-Reported Outcomes and Safety of TYK2 Inhibitors in Psoriasis

Multidisciplinary Collaboration and Diagnostic Frameworks in Wilson Disease