{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:41:14Z","timestamp":1792788074425,"version":"4.5.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T00:00:00Z","timestamp":1708041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T00:00:00Z","timestamp":1708041600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Merck Sharp & Dohme LLC","award":["Merck Sharp & Dohme LLC"],"award-info":[{"award-number":["Merck Sharp & Dohme LLC"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>To date, real-world evidence around the clinical and economic burden related to von Hippel-Lindau (VHL) disease is limited. Therefore, this study characterized the prevalence, healthcare resource utilization (HRU), and economic burden of von Hippel-Lindau\u2013associated central nervous system hemangioblastoma (VHL-CNS-Hb) and pancreatic neuroendocrine tumors (VHL-pNET) in the United States (US).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Patients with VHL-CNS-Hb or VHL-pNET were identified from Optum\u2019s de-identified Clinformatics\u00ae Data Mart Database (2007\u20132020) and matched 1:5 to control patients without VHL disease or CNS-Hb\/pNET. Prevalence rates of VHL-CNS-Hb and VHL-pNET (standardized by age and sex) in 2019 were estimated. HRU and healthcare costs (2020 US dollars) were compared between the VHL-CNS-Hb\/VHL-pNET and control cohorts.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In 2019, US prevalence rates of VHL-CNS-Hb and VHL-pNET were estimated to be 1.12 cases per 100,000 (3,678 patients) and 0.12 cases per 100,000 (389 patients), respectively. Patients with VHL-CNS-Hb (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u2009220) had more inpatient, outpatient, and emergency department visits and $49,645 higher annual healthcare costs than controls (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u20091,100). Patients with VHL-pNET (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u200920) had more inpatient and outpatient visits and $56,580 higher annual healthcare costs than controls (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u2009100). Costs associated with surgical removal of CNS-Hb and pNET were particularly high.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>In this retrospective, claims-based study, both VHL-CNS-Hb and VHL-pNET were associated with substantial HRU and healthcare costs, particularly tumor reduction surgery\u2013related costs. These findings provide important insight for healthcare payers regarding the expected real-world costs that enrollees with VHL-CNS-Hb and VHL-pNET may incur over the course of their disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03060-w","type":"journal-article","created":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T16:14:06Z","timestamp":1708100046000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Epidemiology and economic burden of Von Hippel-Lindau Disease-associated central nervous system hemangioblastomas and pancreatic neuroendocrine tumors in the United States"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0943-2806","authenticated-orcid":false,"given":"Eric","family":"Jonasch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Freimark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Berman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ha","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Signorovitch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murali","family":"Sundaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,16]]},"reference":[{"issue":"3","key":"3060_CR1","doi-asserted-by":"publisher","first-page":"982","DOI":"10.1148\/rg.2018184005","volume":"38","author":"D Ganeshan","year":"2018","unstructured":"Ganeshan D, Menias CO, Pickhardt PJ, Sandrasegaran K, Lubner MG, Ramalingam P, et al. Tumors in Von Hippel-Lindau syndrome: from Head to Toe-Comprehensive State-of-the-art review. Radiographics. 2018;38(3):982.","journal-title":"Radiographics"},{"key":"3060_CR2","doi-asserted-by":"publisher","first-page":"5669","DOI":"10.2147\/OTT.S190753","volume":"13","author":"S Glasker","year":"2020","unstructured":"Glasker S, Vergauwen E, Koch CA, Kutikov A, Vortmeyer AO. Von Hippel-Lindau Disease: current challenges and Future prospects. Onco Targets Ther. 2020;13:5669\u201390.","journal-title":"Onco Targets Ther"},{"issue":"3","key":"3060_CR3","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1038\/ejhg.2016.173","volume":"25","author":"MLM Binderup","year":"2017","unstructured":"Binderup MLM, Galanakis M, Budtz-J\u00f8rgensen E, Kosteljanetz M, Luise Bisgaard M. Prevalence, birth incidence, and penetrance of Von Hippel\u2013Lindau disease (vHL) in Denmark. 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RB and HN were employees of Analysis Group, Inc. at the time of study conduct. MS is an employee of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc., Rahway, NJ, USA. EJ has received research funding from Arrowhead, Merck, and NiKang as well as honoraria from Aveo, Aravive, Calithera, Eisai, Exelixis, Ipsen, Merck, NiKang, Novartis, Pfizer, and Takeda.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"73"}}