Martina J. Porter, MD, is a dermatologist at Beth Israel Deaconess Medical Center.

Povorcitinib Efficacy Holds in Biologic-Experienced HS, With Martina Porter, MD

Oral povorcitinib demonstrated sustained and deepening clinical response through 54 weeks in moderate-to-severe hidradenitis suppurativa (HS), with a biologic-experienced subgroup comprising nearly 40% of enrolled patients achieving efficacy rates comparable to those without prior biologic exposure.

Martina L. Porter, MD, of Harvard Medical School and Beth Israel Deaconess Medical Center in Boston, presented the 54-week STOP-HS extension data as a late-breaking abstract at the 

2026 American Academy of Dermatology (AAD) Annual Meeting

 held in Denver, Colorado, from March 27-31.

The STOP-HS extension follows up the STOP-HS1 (NCT05620823) and STOP-HS2 (NCT05620836), identically designed global phase 3 trials with a combined enrollment of 1,227 adults with moderate-to-severe HS (STOP-HS1, n = 608; STOP-HS2, n = 619), randomized 1:1:1 to povorcitinib 75 mg once daily, 45 mg once daily, or placebo for a 12-week placebo-controlled period, followed by a 42-week blinded extension through week 54. Enrollment required abscess and nodule (AN) count ≥5 in ≥2 anatomic areas, Hurley Stage II or III disease, duration ≥3 months, and prior systemic therapy. Mean disease duration was 10.3 years (SD, 9.4), mean AN count was 12.0 (SD, 8.8), and 75.5% had at least 1 draining tunnel at baseline. Biologic-experienced patients — those with prior exposure to a TNF-α or IL-17 inhibitor — comprised 37.2% of the trial population, a proportion Porter noted is substantially higher than in prior phase 3 HS programs.

At the primary endpoint of HiSCR50 at week 12, both doses achieved statistical significance versus placebo in both studies — 40.2% (45 mg) and 40.6% (75 mg) versus 29.7% for placebo in STOP-HS1 (

 <.025), and 42.3% for both doses versus 28.6% for placebo in STOP-HS2 (

 <.01). Response continued to deepen through the blinded extension, with HiSCR50 reaching 60.2% to 61.9% in STOP-HS1 and 57.3% to 67.5% in STOP-HS2 by week 54 in patients on continuous povorcitinib, and placebo-crossover patients achieving comparable rates after switching at week 12. High-threshold responses accumulated substantially over time: up to 29.0% of patients achieved HiSCR100 at week 54, and complete clearance of all inflammatory lesions (ANdT = 0) was documented in 16.1% to 20.2% of patients across both studies. 

at the meeting, Porter characterized the new data as clinically important in a disease where mechanistic heterogeneity likely determines which patients succeed on which treatments. Porter framed the deepening responses as a recalibration of what clinicians should expect from HS therapy — response at the 12- to 16-week placebo-controlled primary endpoint represents an early signal, not a treatment ceiling, and 6 to 12 months of continued therapy may be required before patients reach their maximal benefit.

A separate subgroup analysis presented at the same meeting examined efficacy in the biologic-experienced cohort specifically. These patients carried greater baseline disease burden — higher AN counts and more draining tunnels — consistent with a more refractory disease phenotype. Despite this, their HiSCR response rates at both week 12 and week 54 were comparable to those seen in the overall trial population, a result Porter described as mechanistically explanatory: patients who failed TNF-α or IL-17 inhibitors may not have been signaling disease primarily through those pathways, and JAK1 inhibition via the JAK-STAT axis represents a genuinely distinct mechanism capable of capturing response in that population. She noted this pattern is consistent with her clinical experience. The depth-of-response data further support this picture: by week 54, up to approximately 20% of patients achieved near-complete or complete inflammatory clearance, a threshold more familiar from psoriasis and atopic dermatitis than historically from HS. Patient-reported outcomes at week 54 reflected the clinical gains, with ≥3-point decreases in skin pain NRS achieved in 40.5% to 58.0% of eligible patients and ≥4-point improvements in DLQI in 59.4% to 64.7%.

Safety through week 54 was consistent with the established class profile of JAK1 inhibitors. The most common treatment-emergent adverse events were acne (16.4%–21.1%), nasopharyngitis (9.4%–13.6%), and upper respiratory tract infection (9.1%–12.2%). Serious treatment-emergent adverse events occurred in 3.7% to 6.4% of patients across arms; no malignancies excluding non-melanoma skin cancer were reported and MACE was observed in 1 patient (0.3%) in STOP-HS2.

“I think our mentality or mindset about treating patients has really shifted to where we're not expecting them to respond to therapies like our psoriasis patients do, or even our atopic dermatitis patients, this is a very different disease, but the data is very reassuring in terms of the efficacy,” Porter said.

Relevant disclosures for Porter include Abbvie, Bristol Myers Squibb, Janssen, Eli Lilly, Novartis, Pfizer, UCB, Trifecta Clinical, Incyte, and Anaptys Bio.

Porter ML, et al. Povorcitinib in moderate-to-severe hidradenitis suppurativa: 54-week results from the phase 3 STOP-HS1 and STOP-HS2 trials. Presented at: AAD Annual Meeting; Denver, Colorado; March 27-31, 2026.

Porter ML, et al. Povorcitinib efficacy in biologic-experienced patients with moderate-to-severe hidradenitis suppurativa: subgroup analysis from STOP-HS1 and STOP-HS2. Presented at: AAD Annual Meeting; Denver, Colorado; March 27-31, 2026.

Videos

Extension data through week 54 reveal deepening responses with povorcitinib in moderate-to-severe HS.


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Thierry Passeron, MD, PhD, is a professor and chair of the Department of Dermatology at the Université Côte d'Azur in Nice, France.

 continues to emerge in the vitiligo treatment landscape, and clinicians in the skin health space are beginning to see meaningful shifts in the previously limited systemic therapy landscape.

 editorial team spoke about some new data on upadacitinib for non-segmental vitiligo alongside Thierry Passeron, MD, PhD, professor and chair of the Department of Dermatology at the Université Côte d'Azur in Nice, France.

The team spoke with Passeron about the latest phase 3 findings on upadacitinib, a Janus-kinase (JAK) inhibitor, resulting from the Viti-Up-1 and Viti-Up-2 studies, as well as the drug’s significance in the broader evolution of vitiligo care.

 The following Q&A includes his responses:

Would you tell us a bit about the new data that you presented, putting it into its proper context within the current treatment landscape for vitiligo?

 We know now that vitiligo is an autoimmune disorder. Unfortunately, so far, there is no systemic treatment approved for vitiligo, and there is still a high need for patients suffering from vitiligo. Here we report the first phase 2 and phase 3 studies on the use of upadacitinib 15 milligrams for adults, but also adolescents, more than 12 years old, suffering from non-segmental vitiligo. There were two studies…They included patients with non-segmental vitiligo affecting both the face and the body. On the face, the inclusion criteria were a F-VASI ≥ 0·5 and a [Total Vitiligo Area Scoring Index (T-VASI)] ≥ 5. It was 48 weeks study and compared to a placebo, and the randomization was 2 to 1, so the patient received either upadacitinib 15 milligrams or the placebo once daily.

 Were there any other notable elements of the study design worth mentioning?

 It was equally men and women. Most of the patients were White, followed by Asian, and not that many Black patients. Most of the patients were skin types 3 and 4. Very importantly, it was a very severe population…Both co-primary endpoints were met and were highly significant against placebo. About 20% of the patients, after 48 weeks, reached T-VASI 50 compared to about 6% in placebo…The results between the 2 studies were quite similar. So it's positive results. What was so important was that we know that in vitiligo, it takes a lot of time. And here it was true monotherapy without phototherapy, without su-exposure.

What we are seeing is that there is increased repigmentation during this time, and it's not reaching a plateau, which is not surprising. We know that we need most of the time, 1, 2, or 3 years to get optimal repigmentation In vitiligo, and even more in patients who are that severe, such as in this study.

The last but very important point is safety. In fact, this is the first study assessing any JAK inhibitors against a placebo for a period of over 48 weeks. The tolerance was very good in the groups in the 2 studies. There was no new safety signal. What we usually expect with JAK inhibitors is some nasopharyngitis, acne, folliculitis, but no MACE, no BTA, no gastrointestinal perforation. So, a very good safety profile in this population, which is very reassuring.

What might be some next steps for this research on upadacitinib in this population?

 In fact, we are looking forward to the longer-term results, because now the study is continuing in open-label for 2 years. After two years, the patient who wants to can combine with narrow band UVB, and we’re already seeing in my department that the patient is continuing to improve. But we are we must wait for the results, and I'm quite optimistic also that…it will boost the recommendation. But what is already good is that it also halts the disease progression for those patients who are very active, it also halts the disease progression, which is something very important for the patient, not seeing the lesions growing and growing indefinitely.

 Were there any differences among subgroups you highlighted in these analyses?

We don't know yet. We didn't analyze the subgroup analysis. Of course, there's a lot of data, so a lot to dig into, but we don't know yet. Also, with the patients, depending on adolescents and adults, [we are wondering whether there] are any differences? We are waiting for this sub-analysis. It's just the first result we have.

The quotes contained in this summary were edited for the purposes of clarity.

Passeron is a consultant for AbbVie, Almirall, Amgen, Bristol Myers Squibb, Calypso, Galderma, Incyte Corporation, Janssen, Eli Lilly, Novartis, Pfizer, Roivant, UCB, and VYNE Therapeutics. He has received grants and/or honoraria from AbbVie, ACM Pharma, Almirall, Amgen, Astellas, Bristol Myers Squibb, Calypso, Celgene, Galderma, Genzyme/Sanofi, GlaxoSmithKline, Incyte Corporation, Janssen, LEO Pharma, Eli Lilly, Novartis, Pfizer, Roivant, Sun Pharmaceuticals, Takeda, UCB, and VYNE Therapeutics. He is the cofounder of NIKAIA Pharmaceuticals and founder of SUNLUTION, and has patents on WNT agonists or GSK3b antagonist for repigmentation of vitiligo and the use of CXCR3B blockers in vitiligo.

Passeron T, Prajapati V, Seneschal J, et al. Efficacy and Safety of Upadacitinib in Adolescents and Adults for Treatment of Non-Segmental Vitiligo: Results of Two Phase 3 Studies (Viti-Up). Presented at: 2026 American Academy of Dermatology Annual Meeting; March 27-31, 2026; Denver, CO.

Smith T. Upadacitinib Regulatory Applications Submitted for Adults, Adolescents with Vitiligo. HCPLive. February 3, 2026. Accessed March 30, 2026. 

https://www.hcplive.com/view/upadacitinib-regulatory-applications-submitted-adults-adolescents-vitiligo

Articles

Phase 3 Viti-Up-1 and Viti-Up-2 evaluated upadacitinib 15 mg once daily as monotherapy in adolescents (≥12 years) and adults with severe non-segmental vitiligo involving face and body (F-VASI ≥0.5; T-VASI ≥5) over 48 weeks. Both co-primary endpoints were met with statistically significant repigmentation versus placebo, including ~20% achieving T-VASI50 at week 48 versus ~6% on placebo. Repigmentation continued to increase without an apparent plateau. Safety over 48 weeks was reassuring, with no new signals.

This Q&A interview highlights several takeaways from the data on upadacitinib in patients with non-segmental vitiligo (NSV).

Vitiligo

Vitiligo condition center page is a comprehensive resource for clinical news and insights on the dermatologic condition. This page consists of interviews, articles, podcasts, and videos on the research, treatment and development of therapies for the affected skin of vitiligo patients.

Key Insights on Upadacitinib’s Efficacy for Non-Segmental Vitiligo, With Thierry Passeron, MD, PhD

Chelsie Derman is an associate editor for 

who covers allergy and  psychiatry. She joined MJH Life Sciences in September 2023 after graduating from The College of New Jersey with a bachelor’s degree in journalism and professional writing. In her free time, she enjoys creative writing and reading.

Featured: Jamie Blum, PhD (bottom left), Jose Clemente, PhD (top right), and Susanne Brix-Pedersen (bottom right)

 care has long focused on management after sensitization, with efforts on desensitization and forms of epinephrine for anaphylaxis. The ultimate question is: can we prevent allergy before it begins?

Currently, food allergy management relies on 3 approaches: avoidance, medications, and immunotherapy. For emergencies, patients can carry epinephrine. Until recently, allergies could only be managed, not prevented altogether, but now new research shows the possibility of preventing food allergies in the critical early-life window.

“If a child is either sensitized to a food allergen or…theoretically allergic to a food allergen… we can actually get small amounts of the food into their diet without actually stimulating their immune allergic response,” Nicole Chase, MD, an allergist/immunologist at St. Paul Allergy & Asthma, told 

. “We actually can sometimes reverse this process.”

She referenced a study led by Julie E. M. Upton, MD, MPH, from the Food Allergy and Anaphylaxis Program at the Hospital for Sick Children in Toronto, which showed that if you can get 30 mg of peanut protein into a kid’s diet, it can help promote tolerance.2 The data indicate that early food introduction can be safe in children under 35 months of age, but Chase suspects 18 months is probably the right number. The study found that very low-dose oral immunotherapy (VLOIT), with a goal to slowly escalate to a 30 mg per nut maintenance dose, led to significant gains in reaction threshold by 18 months, with mean tolerated doses reaching 1000 mg.

“This is why for parents and families where there's been some type of reaction to foods, it's so important to get those kids in to see an allergist right away,” she added.

However, Upton and colleagues’ study included children already allergic to 2 – 5 nuts, so this research did not provide insight into food allergy prevention before sensitization.

Previously, the landmark Learning Early About Peanut Allergy (LEAP) trial showed early peanut introduction can protect high-risk infants from developing peanut allergies.

By 5 years old, 3.2% of the peanut consumption group vs 17.2% of the avoidance group developed a peanut allergy, representing an approximately 80% relative risk reduction in peanut-exposed children.

The LEAP study informed early food introduction guidelines in 2015 for high-risk infants and the 2017 addendum guidelines which extended the recommendations to moderate-to-high-risk infants.

A study published October 2025 reported a 27% decline in peanut allergy rates following the 2015 early introduction guidelines (0.67% vs 0.92%; 

New data continue to drive momentum in food allergy prevention before sensitization, suggesting risk may be modified at the microbiota level.

Vaginal Seeding Linked to Early Microbiome Changes and Food Sensitization

, presented at the 2026 American Academy of Allergy, Asthma, & Immunology (AAAAI) meeting in Philadelphia, suggest vaginal seeding in cesarean-delivered infants can partially modify early gut microbiome development and may influence food allergen sensitization at 12 months.

 The double-blind, placebo-controlled randomized study evaluated whether exposure to maternal vaginal microbiota at birth could alter allergy risk among infants at high risk for allergic disease.

The trial included 39 vaginally delivered infants, 37 cesarean-delivered infants assigned to placebo seeding, and 37 cesarean-delivered infants who underwent vaginal microbial transfer. Seeding involved swabbing newborns with gauze incubated in the maternal vagina before delivery. Shotgun metagenomic sequencing confirmed microbial transfer, with enrichment of Lactobacillus immediately after birth in seeded infants (

At 3 months, microbiome similarity to vaginally delivered infants was greater among seeded infants, although the effect was partial (similarity indices 0.876 ± 0.07 vs 0.9 ± 0.06; 

 =.169) and diminished over time. By 12 months, global microbiome composition differences were no longer apparent.

Maternal vaginal microbiome composition was not associated with food sensitization at 12 months (

 =.86). However, specific infant gut microbes were linked to sensitization, including 

 with egg, milk, and peanut sensitization (

 =.013, .032, and .006, respectively). Seeded infants exhibited lower levels of 

 and, when microbial transfer was effective, lower sensitization rates than placebo.

“It's important to remember that the ACTIVATE trial is a pilot trial,” Jose Clemente, PhD, associate professor of genetics and genomics and immunology at the Icahn School of Medicine at Mount Sinai, told 

. “One of the ideas behind the trial is to determine whether the procedure is safe, and that is the case; the procedure is not associated with increased adverse events. There is a measurable benefit, but it's not yet ready to be [developed] in [the] clinic.”

Early-Life Bifidobacteria Linked to Lower Food Allergy Risk

 in February 2026 reported that early colonization with aromatic lactate–producing bifidobacteria was associated with lower risk of food allergen sensitization and atopic dermatitis.

“There's no causal link at this moment,” investigator Susanne Brix-Pedersen, professor at DTU Bioengineering told 

. “As I see it, we have this prospective study where we see associations, but we don't have any studies that have been designed to actually look at the causal interaction at this moment. We are undertaking a bigger study in 1000 Danish infants, where we are trying to…investigate this in detail.”

The cohort followed 147 children from birth to age 5, with serial fecal sampling at 8 time points alongside maternal samples, blood draws, and clinical assessments. Investigators identified a microbiota–metabolite–immune axis in which infants with higher abundance of specific bifidobacteria, particularly within the first 6 months of life, had elevated levels of aromatic lactates and reduced food allergen–specific immunoglobulin E (IgE) through age 5. The protective association appeared mediated by 4-hydroxy-phenyllactate (4-OH-PLA), a bacterial metabolite that selectively inhibited IgE production in ex vivo human immune cell cultures without affecting IgG.

Infants with higher levels of these bacteria also had reduced rates of atopic dermatitis at age 2. Early-life exposures influenced colonization, with vaginal delivery, exclusive breastfeeding during the first 2 months, and exposure to older siblings associated with greater acquisition. Vaginally delivered infants were up to 14 times more likely to acquire the strains from their mothers.

Dietary Epitopes Identified as Drivers of Oral Tolerance

New translational research has identified 

discrete dietary epitopes that drive oral tolerance

. The research, published in Science Immunology in March 2026, offers mechanistic insight into how the immune system classifies foods as safe.

Investigators isolated intestinal regulatory T (Treg) cells in murine models fed standard chow and mapped their T cell receptor (TCR) specificity, identifying 3 dominant epitopes derived from seed storage proteins in corn, wheat, and soybean. One of the strongest responses targeted α-zein, a digestion-resistant maize storage protein.

Investigators observed convergence on a limited number of antigens, suggesting a small set of dietary proteins may disproportionately shape immune tolerance. Antigen-specific Treg populations emerged around weaning, coinciding with introduction of solid foods and aligning with clinical evidence supporting early allergen exposure to promote tolerance.

The identified Treg cells demonstrated canonical immunosuppressive functions, including anti-inflammatory cytokine secretion and inhibition of effector T cell proliferation. The study also identified cross-reactivity, with TCRs recognizing a soybean-derived epitope responding to structurally similar proteins in sesame and quinoa.

“What this could suggest, and my lab is working on this a bit now, is perhaps if we could map cross-reactivity for things like a peanut, you could become tolerant to peanut by eating something that has those shared proteins without actually having the peanut exposure,” said Jamie Blum, PhD, from the Salk Institute, in an interview with 

What The Studies Mean for Food Allergy Prevention

Food allergy prevention before sensitization has not yet become a reality. These studies are still in the early stages, with more research needed to confirm whether these strategies will work.

For now, the guidelines recommend food introduction beginning at 4-6 months of age. The addendum guidelines suggest first consulting an allergy specialist who can perform peanut allergy testing, followed by trying peanut for the first time at a doctor’s office.

“I'm going to steal it from the Australians… eat early and eat often,” Chase said. “We don't want children to be exposed to foods that might be choking hazards, but really to otherwise go ahead and try and expose them to everything they're eating. I have a lot of families where they are nervous for whatever reason, because maybe another child has a food allergy…those parents need to be offered an evaluation by an allergist because they may not be willing to do it at home to introduce foods early. Putting the food directly into the baby's mouth and…exposing them to it on a semi-regular basis [is] what's been shown to reduce your food allergy risk.”

Watch the dynamic video on food allergy prevention, featuring Chase, Clemente, Brix-Pedersen, and Blum, 

Clemente J, Brix-Pedersen S, Blum J, et al. The Early-Life Window: Can Food Allergy Be Prevented Before It Begins? HCPLive. Published on April 13, 2026. Accessed on April 15, 2026. 

https://www.hcplive.com/view/early-life-window-can-food-allergy-prevented-before-begins-

Upton J. VLOIT Boosts Multi-Nut Tolerance in Children, With Julia E. M. Upton, MD, MPH. HCPLive. Published on January 17, 2026. Accessed on April 15, 2026. 

https://www.hcplive.com/view/vloit-boosts-multi-nut-tolerance-in-children-julia-upton-md-mph

Du Toit G, Sampson HA, Plaut M, Burks AW, Akdis CA, Lack G. Food allergy: Update on prevention and tolerance. J Allergy Clin Immunol. 2018 Jan;141(1):30-40. 

. Epub 2017 Nov 27. PMID: 29191680; PMCID: PMC12548800.

Derman C. Early Peanut Introduction Guidelines Linked to Drop in Food Allergy Rates. HCPLive. Published October 20, 2025. Accessed April 15, 2026. 

https://www.hcplive.com/view/early-peanut-introduction-guidelines-linked-drop-food-allergy-rates

Clemente J. Vaginal Seeding Partially Modifies Infant Microbiome in ACTIVATE, With Jose Clemente, PhD. HCPLive. Published on March 1, 2026. Accessed on April 15, 2026. 

https://www.hcplive.com/view/vaginal-seeding-partially-modifies-infant-microbiome-activate-jose-clemente-phd

Brix-Pedersen S. Early-Life Bifidobacteria Linked to Lower Food Allergy Risk, With Susanne Brix Pedersen. HCPLive. Published on February 4, 2026. Accessed on April 15, 2026. 

https://join.hcplive.com/view/early-life-bifidobacteria-linked-lower-food-allergy-risk-susanne-brix-pedersen

Blum, J. Dietary Epitopes Drive Oral Tolerance, With Jamie Blum, PhD. HCPLive. Published on March 26, 2026. Accessed on April 15, 2026. 

https://www.hcplive.com/view/dietary-epitopes-drive-oral-tolerance-jamie-blum-phd

Early-life interventions are increasingly positioned to shift food allergy care from post-sensitization management toward primary prevention. Evidence supports early allergen introduction, including LEAP-derived reductions in peanut allergy and emerging real-world declines after guideline adoption. Very low-dose oral immunotherapy can substantially raise reaction thresholds in already-allergic young children, though it is not primary prevention. Parallel lines of investigation implicate microbiome modulation (eg, vaginal seeding, bifidobacterial metabolites) and defined dietary epitopes driving antigen-specific Treg responses as mechanistic levers for durable oral tolerance.

Evidence from 3 recent studies explores microbiome modulation, early allergen exposure, and immune tolerance as pathways for food allergy prevention.

Features

Allergy

Allergy condition center page is a comprehensive resource for clinical news and insights on allergic and inflammatory diseases. This page consists of interviews, articles, podcasts, and videos on the research, treatment and development of therapies for food and seasonal allergies, as well as allergic asthma and related conditions.

Food Allergy

Can Food Allergy Be Prevented Before It Begins? A Look At 3 Recent Studies

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.

Although Wilson disease is considered rare, experts at a recent HCPLive clinical forum convened by Valentina Medici, MD, a professor in the division of Gastroenterology and Hepatology at University of California Davis, emphasized that its true prevalence may be underestimated due to frequent underdiagnosis and delayed recognition.

A rare inherited multisystem disorder affecting approximately 1 in 30,000 individuals worldwide, Wilson disease primarily impacts hepatic and neurological function and stems from pathogenic mutations in the ATP7B gene, which impairs the liver’s ability to excrete excess copper. Copper accumulation damages the liver and brain, and without daily treatment, the disease is fatal.

At the forum, clinicians discussed real-world challenges in identifying and managing the disease, highlighting diagnostic uncertainty, variability in presentation, and evolving treatment approaches.

Participants noted that most clinicians encounter only a small number of cases throughout their careers, limiting familiarity and contributing to missed or delayed diagnoses. While the disease is traditionally considered uncommon, emerging data suggest that genetic prevalence may exceed clinical detection, reinforcing concerns that many cases go unrecognized.

A Rare Disease With Broad, Atypical Presentations

A central theme of the discussion was the heterogeneity of Wilson disease. While hepatic manifestations are the most common, it can affect multiple organ systems, including the brain, kidneys, and musculoskeletal system.

Of note, only about half of patients present with “classic” features. The remaining patients fall into less typical presentations, which may include subtle liver abnormalities, neurologic symptoms, or 

Panelists emphasized that these atypical cases are a major driver of missed diagnoses. Patients are often initially labeled with more common conditions such as 

 or autoimmune hepatitis, particularly when liver enzyme abnormalities are mild or nonspecific.

Neurologic and psychiatric symptoms can further complicate recognition. Movement disorders, tremors, and speech abnormalities may emerge gradually, while psychiatric manifestations like anxiety or behavioral changes are often underrecognized and difficult to attribute to an underlying metabolic disorder.

Diagnostic “Gray Zones” and Testing Limitations

Despite established diagnostic criteria, experts highlighted persistent challenges with commonly used tests. Ceruloplasmin, a widely used screening tool, lacks sensitivity and specificity and may be normal or borderline in some patients.

Similarly, 24-hour urinary copper excretion and hepatic copper quantification can be influenced by factors such as inflammation, cholestasis, and treatment status, further complicating interpretation.

These limitations contribute to what panelists described as “diagnostic gray zones,” where clinical suspicion may be high but test results remain inconclusive. In these cases, clinicians often must integrate multiple data points, including clinical presentation, laboratory findings, and, when available, genetic testing.

The Leipzig scoring system was referenced as a helpful framework, though experts acknowledged that it does not fully resolve diagnostic ambiguity in complex cases.

Ultimately, panelists emphasized that clinical suspicion remains critical, particularly in younger patients with unexplained liver abnormalities or neurologic symptoms.

Delays in Diagnosis, Missed Opportunities

The forum highlighted significant delays in diagnosing Wilson disease, particularly in patients with neurologic or psychiatric presentations. In some cases, diagnosis may be delayed by several years, with psychiatric manifestations taking even longer to be correctly attributed to the disease.

These delays can have serious consequences, as untreated disease may progress to advanced liver disease, neurologic impairment, or acute liver failure. Clinicians shared examples of patients presenting late in the disease course, including those requiring urgent liver transplantation.

Panelists stressed that maintaining a high index of suspicion is essential, especially given the overlap between Wilson disease and more common conditions. Even borderline laboratory findings should prompt further evaluation when clinical concern remains high.

A Multidisciplinary Approach to Treatment

Management of Wilson disease extends beyond copper reduction alone. While chelation therapy and zinc remain the foundation of treatment, experts emphasized the need to address neurologic and psychiatric manifestations separately.

Neurologic symptoms may improve with treatment if identified early, but delayed diagnosis can limit reversibility. Psychiatric symptoms, in particular, are often persistent and require dedicated management, including pharmacologic and supportive care.

Long-term adherence to therapy remains a significant challenge, especially among patients diagnosed at a younger age. Panelists highlighted the importance of multidisciplinary care teams, including pharmacists, dietitians, and mental health professionals, to support adherence and optimize outcomes.

Family screening was also emphasized, given the genetic nature of the disease, with siblings and relatives often requiring evaluation.

Looking ahead, participants discussed the potential impact of emerging therapies, including gene therapy and novel agents targeting copper metabolism. Early data from clinical trials suggest that gene therapy may allow some patients to discontinue standard treatments, though these approaches remain investigational.

New diagnostic tools are also under investigation, including biomarkers and advanced histologic techniques that may improve diagnostic accuracy in challenging cases.

Despite these advances, experts emphasized that improving outcomes in Wilson disease will depend largely on earlier recognition and more consistent application of existing diagnostic strategies.

The discussion underscored a key challenge in Wilson disease care: while effective treatments exist, they are only impactful when the disease is identified early. Given the variability in presentation and limitations of current diagnostic tools, clinicians must remain vigilant, particularly when evaluating younger patients with unexplained hepatic, neurologic, or psychiatric symptoms.

As research continues to advance, the potential to improve outcomes is growing. However, for now, panelists agreed that heightened awareness and clinical suspicion remain the most powerful tools for closing the diagnostic gap in Wilson disease.

Wilson Disease Association. Wilson Disease. Published August 13, 2021. Accessed April 15, 2026. 

https://wilsondisease.org/do-i-have-wilson-disease/?gad_source=1&gad_campaignid=16684019432&gbraid=0AAAAADN9hfNH0Qklo1N7KKX3qO0womQLJ&gclid=CjwKCAiAw9vIBhBBEiwAraSATuJdNxoP57_7zjL0DUUF0B9EceR3whBrdSIFmutmQSsj2E3BL4nQkhoC-xwQAvD_BwE

NIDDK. Diagnosis of Wilson Disease. October 2018. Accessed April 15, 2026. 

https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease/diagnosis

Wilson disease remains clinically “rare” yet likely underdetected, with genetic prevalence outpacing real-world diagnosis. ATP7B mutations impair biliary copper excretion, driving multisystem copper toxicity with fatal outcomes absent daily therapy. Marked phenotypic heterogeneity—often nonclassic hepatic, neurologic, or psychiatric presentations—fuels diagnostic delays and misattribution to common liver and neuropsychiatric disorders. Standard tests (ceruloplasmin, urinary and hepatic copper) create interpretive gray zones, making integrated assessment and sustained clinical suspicion essential. Multidisciplinary, adherence-focused care, family screening, and emerging gene/copper-targeted therapies may improve outcomes.

Clinicians discuss diagnostic gaps, treatment strategies, and multidisciplinary care in Wilson disease.

Hepatology

Diagnostic Challenges and Evolving Care in Wilson Disease

Cardiovascular and Cardiometabolic Risk in HS Demands Greater Clinical Attention, With Raj Chovatiya, MD, PhD

Patients with hidradenitis suppurativa (HS) face a broad spectrum of cardiovascular and cardiometabolic comorbidities, with risk elevations for multiple major outcomes that are consistent across study designs and geographic regions, according to a recent review and meta-analysis presented at the 

caught up with investigator Raj Chovatiya, MD, PhD, clinical associate professor of medicine at Rosalind Franklin University Chicago Medical School and founder and director of the Center for Medical Dermatology + Immunology Research in Chicago, Illinois, during the meeting, who argued that these findings should push dermatologists toward more systematic cardiovascular risk assessment in patients with HS.

The study was a PRISMA-guided systematic review and random-effects meta-analysis of studies identified through a search of PubMed, Embase, Scopus, CINAHL, and the Cochrane Library from inception through June 16, 2025. Twenty-five studies encompassing 373,689 patients with clinician-diagnosed HS were included. Random-effects meta-analyses were performed using the DerSimonian-Laird estimator, with between-study heterogeneity quantified using Cochran's Q, τ², and I².

Pooled prevalence estimates revealed a broad comorbidity profile across the included populations. Hypertension was the most prevalent condition, affecting 25.52% (95% CI, 20.88-30.45) of patients. Other pooled prevalence estimates included coronary artery disease at 4.2% (95% CI, 1.8-7.4), congestive heart failure at 1.9% (95% CI, 1.2-2.7), myocardial infarction at 1.9% (95% CI, 1.2-2.7), atrial fibrillation or flutter at 1.7% (95% CI, 1.0-2.6), cerebrovascular disease at 2.2% (95% CI, 1.2-3.3), and peripheral vascular disease at 2.2% (95% CI, 0.9-3.9).

The risk association analyses yielded findings Chovatiya described as the most clinically consequential output of the meta-analysis. HS was associated with a risk ratio (RR) of 1.85 (95% CI, 1.44-2.38) for heart failure, 1.75 (95% CI, 1.59-1.92) for coronary and ischemic heart disease, and 1.51 (95% CI, 1.22-1.88) for myocardial infarction. Risk of venous thromboembolism was also elevated, with an RR of 1.72 (95% CI, 1.45-2.05), as was all-cause mortality, with an RR of 1.86 (95% CI, 1.10-3.12). HS was additionally associated with a 52% increased odds of hypertension versus comparators (odds ratio, 1.52; 95% CI, 1.29-1.80). These associations were consistent across study designs and geographic regions. Chovatiya noted that while some pooled prevalence estimates were numerically similar to general population ranges, HS cohorts were disproportionately younger and female — populations in which this degree of cardiovascular risk is not typically expected — suggesting the clinical significance of these findings exceeds what raw prevalence numbers alone convey.

Chovatiya characterized the breadth of the comorbidity profile as the finding that most surprised him on reflection, noting that the aggregated published literature paints a picture of risk that extends across virtually every major cardiovascular outcome category. He framed the findings as supporting a shift toward routine cardiometabolic risk assessment and multidisciplinary preventive care in HS, while acknowledging that the most pressing unanswered question — whether timely targeted therapy modifies these outcomes — cannot be addressed by the existing retrospective observational evidence base. Most included studies lacked detailed reporting on HS severity, treatment exposure, and longitudinal risk factor trajectories, precluding causal inference. Prospective cohort studies and registry-based approaches capturing patients at or near disease onset will be needed to establish whether early intervention changes the cardiovascular trajectory in this population.

“I think what's really probably missing is, in addition to what I talked about [with] good prospective epidemiology, is trying to connect therapeutic intervention to some of these functional outcomes to see, indeed, if these are real risk factors, does timely intervention with targeted treatments make a difference,” Chovatiya said.

Chovatiya previously reported serving as an advisor, consultant, speaker, and/or investigator for AbbVie, Amgen, Apogee Therapeutics, Arcutis, Argenx, ASLAN Pharmaceuticals, Beiersdorf, Boehringer Ingelheim, Bristol Myers Squibb, Cara Therapeutics, Dermavant, Eli Lilly and Company, FIDE, Formation Bio, Galderma, Genentech, GSK, Incyte, LEO Pharma, L’Oréal, Nektar Therapeutics, Novartis, Opsidio, Pfizer Inc., Regeneron, RAPT, Sanofi, Sitryx, and UCB.

Mense SA, Hopkins T, Chovatiya R. Prevalence and risk of cardiovascular comorbidities and cardiometabolic factors in hidradenitis suppurativa: a systematic review and meta-analysis. Poster #76428. Presented at: AAD Annual Meeting; Denver, Colorado; March 27-31, 2026.

Egeberg A, Gislason GH, Hansen PR. Risk of major adverse cardiovascular events and all-cause mortality in patients with hidradenitis suppurativa. 

. 2016;152(4):429-434. doi:10.1001/jamadermatol.2015.6264

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