Targeted literature review and assessment of evidence in microvillus inclusion disease (MVID)

Background & Aims: Microvillous inclusion disease (MVID) is a rare, severe congenital disorder characterized by intractable diarrhea and life-threatening complications, including dehydration, malnutrition, intestinal failure, and eventually death. This review aims to synthesize reported evidence on MVID's clinical Abbreviations: MVID, Microvillous Inclusion Disease; TPN, Total Parenteral Nutrition; IF, Intestinal Failure; TLR, Targeted Literature Review; PRISMA, Preferred Reporting Items for Systematic Reviews and Meta-Analyses; PICO, Population, Intervention, Comparator, Outcome; HPN, Home Parenteral Nutrition; RCT, Randomized Controlled Trial; CRBSI, Catheter-Related Bloodstream Infection; CLD, Cholestatic Liver Disease; CVC, Central Venous Catheter; BMI, Body Mass Index; GI, Gastrointestinal; CT, Computed Tomography; MRI, Magnetic Resonance Imaging; EBV, Epstein–Barr Virus; FBC, Full Blood Count; HRP, Horseradish Peroxidase; Isc, Short-Circuit Current; SIGENP, Societa� Italiana di Gastroenterologia, Epatologia e Nutrizione Pediatrica; SIGEP, Societa� Italiana di Gastroenterologia Epatologia Pediatrica; PNALD, Parenteral Nutrition-Associated Liver Disease; REE, Resting Energy Expenditure; NPEI, Non-Protein Energy Intake; CCD, Congenital Chloride Diarrhea; CTE, Congenital Tufting Enteropathy; MYO5B, Myosin Vb (gene); STX3, Syntaxin 3 (gene); IDI, Intractable Diarrhea of Infancy; SBTx, Small Bowel Transplantation. * Corresponding author. Ospedale Pediatrico Bambin Gesù, Piazza Sant’Onofrio, 4, 00165 Rome, Italy. E-mail addresses: [email protected] (A. Diamanti), [email protected] (M.M. Tabbers), Christos. [email protected] (C. Tzivinikos), [email protected] (M.S. Miqdady), [email protected] (A. Morabito), [email protected] (M. Pantaleoni), [email protected] (P. Chaturvedi), [email protected] (A. Mantovani), [email protected] (R. Badinedi), [email protected] (C. Lambe). Contents lists available at ScienceDirect Clinical Nutrition Open Science journal homepage: www.clinicalnutritionopenscience.com https://doi.org/10.1016/j.nutos.2025.10.007 2667-2685/© 2025 The Author(s). Published by Elsevier Ltd on behalf of European Society for Clinical Nutrition and Metabolism. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). Clinical Nutrition Open Science 64 (2025) 278–304 Keywords: MVID Microvillus inclusion disease Total parenteral nutrition MVID management MVID case reports Target literature review manifestations, treatment, and outcomes, highlighting the disease burden and identifying key gaps in current knowledge. Methods: A literature review was conducted on 83 publications, including case reports and cohort studies. Studies were selected based on clinical or epidemiological data on MVID, focusing on diagnostics, treatment, and patient outcomes. Results: MVID typically presents in neonates with severe diarrhea that rapidly leads to dehydration and 523 malnutrition. MVID is associated with frequent complications and high mortality (30%) reflecting the disease's severity and limitations of current treatments. Most patients remain lifelong dependent on total parenteral nutrition (TPN), increasing risks and burden. The review also revealed a lack of consistent epidemiological data and variability in clinical management. Discussion: Findings underscore the need for standardized diagnostic protocols and treatment strategies. Scarcity of evidence and heterogeneity in management highlight the necessity of more comprehensive studies to improve patient outcomes. Conclusion: Addressing these gaps could optimize care and reduce MVID-associated complications. Future research should focus on robust clinical guidelines and long-term data collection to improve treatment outcomes and survival rates. © 2025 The Author(s). Published by Elsevier Ltd on behalf of European Society for Clinical Nutrition and Metabolism. This is an open access article under the CC BY-NC-ND license (http:// creativecommons.org/licenses/by-nc-nd/4.0/).