Alberto Feletti1, Mariagiulia Anglani1, Bruno Scarpa1, Francesca Schiavi1, Francesca Boaretto1, Stefania Zovato1, Elisa Taschin1, Mario Gardi1, Elisabetta Zanoletti1, Stefano Piermarocchi1, Alessandra Murgia1, Giacomo Pavesi1, Giuseppe Opocher1. 1. Department 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.).
Abstract
BACKGROUND: Although 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. METHODS: We 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. RESULTS: Hemangioblastomas 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. CONCLUSIONS: Our 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.
BACKGROUND: Although 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. METHODS: We 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. RESULTS:Hemangioblastomas 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. CONCLUSIONS: Our 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 VHLpatients, assessing the progression for each function.
Authors: P R Hammel; V Vilgrain; B Terris; A Penfornis; A Sauvanet; J M Correas; D Chauveau; A Balian; C Beigelman; D O'Toole; P Bernades; P Ruszniewski; S Richard Journal: Gastroenterology Date: 2000-10 Impact factor: 22.682
Authors: F Salomé; P Colombeau; V Fermeaux; P Cazaux; J P Dumas; P Pfeifer; J J Moreau; S Richard; F Labrousse Journal: Eur Urol Date: 1998 Impact factor: 20.096
Authors: E R Maher; L Iselius; J R Yates; M Littler; C Benjamin; R Harris; J Sampson; A Williams; M A Ferguson-Smith; N Morton Journal: J Med Genet Date: 1991-07 Impact factor: 6.318
Authors: Russell R Lonser; Gladys M Glenn; McClellan Walther; Emily Y Chew; Steven K Libutti; W Marston Linehan; Edward H Oldfield Journal: Lancet Date: 2003-06-14 Impact factor: 79.321
Authors: Wai T Wong; Elvira Agrón; Hanna R Coleman; Tam Tran; George F Reed; Karl Csaky; Emily Y Chew Journal: Ophthalmology Date: 2007-06-01 Impact factor: 12.079
Authors: Andrea Pantigozo-Rimachi; Giuliana Murillo-Díaz; Nilton Yhuri Carreazo; Victor Manuel Cucho Dávila Journal: Med J Armed Forces India Date: 2020-05-07
Authors: Lisa B E Shields; John E Harpring; Hilary A Highfield; Yi Ping Zhang; Christopher B Shields Journal: J Neurosurg Case Lessons Date: 2021-04-26
Authors: Aleksandra Gilis-Januszewska; Anna Bogusławska; Kornelia Hasse-Lazar; Beata Jurecka-Lubieniecka; Barbara Jarząb; Anna Sowa-Staszczak; Marta Opalińska; Magdalena Godlewska; Anna Grochowska; Anna Skalniak; Alicja Hubalewska-Dydejczyk Journal: Genes (Basel) Date: 2021-03-31 Impact factor: 4.096