ArticleNeuro-oncology2016
Von Hippel-Lindau disease: an evaluation of natural history and functional disability.
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Article in Neuro-oncology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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26citing papers in PubMed, 1 pooled it
1.4field-weighted citation impact, top 21% of its field
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease.Ophthalmology · 2024Pooled it
- Belzutifan for von Hippel-Lindau disease-associated renal cell carcinoma and other neoplasms (LITESPARK-004): 50 months follow-up from a single-arm, phase 2 study.The Lancet. Oncology · 2025Trial
- Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One FamilyJournal of clinical research in pediatric endocrinology · 2026Article
- Dysregulation of the ubiquitin-proteasome system in von Hippel-Lindau syndrome: molecular insights and clinical perspectives.Clinical and experimental medicine · 2025Review
- Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.Journal of Korean Neurosurgical Society · 2025Article
- New Developments in VHL-Associated Neuroendocrine Neoplasms.Current oncology reports · 2025Review
- Long-term Safety and Efficacy of Belzutifan in Von Hippel-Lindau Syndrome: A VHL Coordinating Care Center Experience.Journal of kidney cancer and VHL · 2025Article
- Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.Journal of neuro-oncology · 2024Article
- Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma.Journal of the Endocrine Society · 2024Article
- Surveillance in Children and Adolescents with von Hippel-Lindau (VHL)-Related Pheochromocytomas and Paragangliomas: A Survey of MET and Freiburg-VHL Registries in Germany.Journal of kidney cancer and VHL · 2024Article
- Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth.Acta neurochirurgica · 2023Article
- Comprehensive characterization and building of National Registry of von Hippel-Lindau disease in Brazil.Molecular genetics & genomic medicine · 2023Article
- Von Hippel-Lindau is Associated to Pancreatic Neuroendocrine Tumors: A Comprehensive Review.Journal of kidney cancer and VHL · 2023Article
- Von Hippel-Lindau disease with extramedullary and pancreatic involvement.Medical journal, Armed Forces India · 2022Article
- Is There a Role for Biomarkers in Surveillance of Pancreatic Neuroendocrine Neoplasms in Von Hippel-Lindau Disease?Journal of the Endocrine Society · 2022Review
- Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack.Endocrine connections · 2021Review
- Spinal hemangioblastoma: surgical procedures, outcomes and review of the literature.Acta neurologica Belgica · 2021Review
- A Critical Appraisal of Contemporary and Novel Biomarkers in Pheochromocytomas and Adrenocortical Tumors.Biology · 2021Review
- Rehabilitation management in two siblings with Von Hippel-Lindau syndrome: A case series.Journal of musculoskeletal & neuronal interactions · 2021Article
- Intradural, extramedullary hemangioblastoma at the level of the conus medullaris: illustrative case.Journal of neurosurgery. Case lessons · 2021Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Alberto FelettiDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Mariagiulia AnglaniDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Bruno ScarpaDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Francesca SchiaviDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Francesca BoarettoDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Stefania ZovatoDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Elisa TaschinDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Mario GardiDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Elisabetta ZanolettiDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Stefano PiermarocchiDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Alessandra MurgiaDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Giacomo PavesiDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Giuseppe OpocherDepartment of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).
Istituto Oncologico Veneto · ITUniversity of Padua · ITOspedale Sant Antonio · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough many studies have been published about specific lesions characterizing von Hippel-Lindau(VHL) disease, none have dealt with the natural history of the whole disease and the consequent disabilities. We aim to define the comprehensive natural history of VHL disease and to describe the functional disabilities and their impact upon patients' quality of life, thereby tailoring the follow-up schedule accordingly.
methodsWe performed a prospective analysis on 128 VHL-affected patients beginning in 1996. For each affected organ, we defined intervals between the first and subsequent VHL-related manifestations and compared them with current VHL surveillance protocols. We looked for any association of the number of involved organs with age, sex, type of VHL gene mutation, and functional domain mutation. Ultimately, we assessed the organ-specific disabilities caused by VHL disease.
resultsHemangioblastomas show different patterns of progression depending on their location, whereas both renal cysts and carcinomas have similar progression rates. Surgery for pheochromocytoma and CNS hemangioblastoma is performed earlier than for pancreatic or renal cancer. The number of involved organs is associated with age but not with sex, type of VHL gene mutation, or functional domain mutation. A thorough analysis of functional disabilities showed that age is related to the first-appearing functional impairment, but it is not predictive of the final number of disabilities.
conclusionsOur study defines the disease progression and provides a comprehensive view of the syndrome over time. We analyzed for the first time the functional disability of VHL patients, assessing the progression for each function.
Indexed as
Disability EvaluationDisease ProgressionFemaleHemangioblastomaHumansMaleMutationProspective StudiesQuality of Lifevon Hippel-Lindau Diseasedisabilityfollow-upfunctional impairmentnatural historyVHL
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