Perianal fistulas in Crohn’s disease (PFCD) continue to pose a therapeutic challenge owing to low rates of healing and remission. Identifying biomarkers involved in their pathogenesis and diagnosis is essential for personalising care and improving treatment outcomes. This systematic review aims to highlight PFCD biomarkers and provide insights for clinical practice. This systematic review, registered at PROSPERO (CRD42024575480) and conducted in accordance with PRISMA guidelines, includes English-language studies on PFCD biomarkers published through May 2025. Searches were performed in PubMed and Scopus. Study selection and risk-of-bias assessment were conducted independently by two reviewers, according to prespecified search and eligibility criteria. Of 5242 records initially identified, 3700 were screened, and 33 studies were included (24 addressing pathogenesis and 9 diagnostic biomarkers). Variants in OCTN1/2, NOD2, IRGM, TYK2, and VDR genes influence fistula risk and severity in Crohn’s disease, particularly polymorphisms in IRGM, NOD2, and genes within the JAK–STAT signalling pathway. Altered microbiota and the presence of antibiotic resistance genes support a bacterial role in pathogenesis. Key pro-inflammatory cytokines (IL-1β, TNF-α, IL-6) and cellular populations (CD4⁺ T-cells, macrophages) drive inflammation, while epithelial-mesenchymal transition and extracellular matrix remodelling contribute to fistula persistence. Recent evidence suggests that PFCD arises from complex immune-stromal cell interactions, involving cellular senescence, epigenetic alterations, and population heterogeneity. Diagnostic advances include metabolic profiling and urinary Raman spectroscopy, alongside established biomarkers such as granulomas, faecal calprotectin, and NGAL. This review highlights several promising biomarkers involved in the pathogenesis and diagnosis of PFCD; however, heterogeneity across studies limits their immediate translation into clinical guidelines. Larger, well-designed studies are needed to validate these biomarkers and support personalised treatment strategies.
INTRODUCTION: Relapsing polychondritis (RP) is a rare inflammatory disease characterized by recurrent inflammation of cartilaginous structures and a broad spectrum of systemic features. To date, no Health-related Quality of life (QoL) data are available in RP, and generic measures may not fully capture the unique burden faced by patients, given the specific nature of RP symptoms. This study aimed to identify QoL facets relevant for further inclusion in a disease-specific QoL instrument, the RP-QoL. METHODS: An international study was conducted within the framework of the European Reference Network ReCONNET, using an online interview script designed by nine physicians, a clinical psychologist, and two patient representatives. The survey was cross-culturally adapted into five languages. Thematic analysis was performed by native speakers of each language and further aggregated to characterize QoL in RP. RESULTS: A total of 274 patients (median age: 54yo, 86% women) from 22 countries completed the interview. The most affected QoL facets were ‘personal relationships’ (58.8%), ‘work capacity’ (51.8%), and ‘daily activities’ (47.8%). Additional concerns included mainly fatigue, pain, cognition, mental health and social life. A total of 67 patients (24.5%) identified 20 specific issues not fully captured by generic QoL instruments, such as difficulties for planning, verbal communication, vision impairment, as well as not being considered seriously by those around them. CONCLUSION: This study highlights the profound burden of RP and emphasizes the need for the development of a disease-specific health-related QoL instrument, as a way to improve patient-centered care and disease management.
Background Chronic hand eczema (CHE) is a common dermatitis with morphological and aetiological heterogeneity. Allergic contact dermatitis (ACD) is a major aetiology, and patch testing (PT) is essential to characterize CHE and guide its treatment and prevention.Objectives Determine the prevalence of ACD in CHE patients, describe relevant allergens, and identify differences in atopic and occupational settings.Methods We conducted a multicentric retrospective observational study, based on PT results of CHE patients evaluated between 2021 and 2023, in Portuguese dermatology departments, comparing atopic dermatitis and non-atopic and occupational and non-occupational groups.Results Among 1267 patients (391 males/876 females) with CHE, representing 43% of all patients tested, 57% had at least one positive PT reaction, 41% of which were currently relevant. The most common allergens included metals, preservatives, fragrances, rubber constituents and 2-hydroxyethyl methacrylate. The occupational group revealed higher relevance rates for metals and benzisothiazolinone, whereas in the atopic dermatitis group, methylisothiazolinone and Myroxylon pereirae were considered more frequently relevant.Conclusions CHE patients present a high sensitization rate and ACD is a main aetiology. Methylisothiazolinone and 2-hydroxyethyl methacrylate are confirmed as emergent allergens. The higher relevance rate of metals and benzisothiazolinone in the occupational group reinforces the importance of PT in the occupational setting.
Hepatotoxicity is a significant concern in systemic cancer treatments. The pembrolizumab-axitinib combination, used in advanced renal cell carcinoma (RCC), is associated with a 22% incidence of ≥G3 liver enzyme elevations. In this case report we provide the first description of liver biopsy findings of axitinib or pembrolizumab-axitinib drug-induced liver injury (DILI). These findings may enhance understanding of the hepatotoxic effects of this combination and inform strategies for patient management.
