Open AccessJournal Article
Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition.
Binderup Ml,Marie Luise Bisgaard,Harbud,Hans Ulrik Møller,Steen Gimsing,Lennart Friis-Hansen,Hansen Tv,Per Bagi,Ulrich Knigge,Michael Kosteljanetz,Lars Bøgeskov,Carsten E. Thomsen,Anne-Marie Gerdes,Lilian Bomme Ousager,Lone Sunde +14 more
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TLDR
These clinical guidelines outline the criteria and recommendations for diagnostic and genetic work-up of families suspected of von Hippel-Lindau disease (vHL), as well as recommendations for prophylactic surveillance for vHL patients.Abstract:
These clinical guidelines outline the criteria and recommendations for diagnostic and genetic work-up of families suspected of von Hippel-Lindau disease (vHL), as well as recommendations for prophylactic surveillance for vHL patients. The guideline has been composed by the Danish Coordination Group for vHL which is comprised of Danish doctors and specialists interested in vHL. The recommendations are based on longstanding clinical experience, Danish original research, and extensive review of the international literature. vHL is a hereditary multi-tumour disease caused by germline mutations in the VHL gene. vHL is inherited in an autosomal dominant manner. Predisposed individuals are advised to undergo prophylactic examinations, as they are at lifelong risk of developing multiple cysts and tumours, especially in the cerebellum, the spinal cord, the retina (hemangioblastomas), the kidneys (renal cell carcinoma), the adrenal glands (pheochromocytoma), the pancreas, as well as in other organs. As many different organs can be affected, several medical specialities often take part in both diagnosis and treatment of manifestations. vHL should be suspected in individuals with a family history of the disease, and/or in individuals with a vHL-associated manifestation; i.e. a hemangioblastoma in the retina or the central nervous system, familial or bilateral pheochromocytomas, familial, multiple, or early onset renal cell carcinomas, and in individuals with an endolymphatic sac tumour in the inner ear. Individuals suspected of vHL should be referred to a department of clinical genetics for genetic work-up and counselling as well as have a clinical work-up to identify any undiagnosed vHL-associated manifestations. This guideline describes the elements of the clinical diagnostic work-up, as well as the genetic work-up, counselling, and mutation screening. Individuals who are affected with vHL, individuals at risk of vHL, and VHL-mutation carriers are advised to follow the surveillance program which consists of regular prophylactic examinations relevant to different age groups. The examinations are recommended to start in infancy with annual paediatric examinations and ophthalmoscopy until the age of five years. From five to 14 years, annual plasma-metanephrine and plasma-normetanephrine tests, as well as annual hearing examinations are added. Also, an MRI (Magnetic Resonance Imaging) examination of the CNS and abdomen should be done between the ages of eight and 14 years. After the age of 15 years, individuals should be referred to: a) annual ophthalmoscopy in dilation, b) annual neurological examination, c) every two years: MRIs of the CNS, including the inner ear, d) annual ultrasound/MRI of the abdomen, e) annual plasma-metanephrine, plasma-normetanephrine, and plasma-chromogranin A tests, and f) annual hearing examination at a department of audiology. It is advised that one doctor takes on the responsibility of coordination of and referral to the many examinations, and the communication with the patient. To facilitate the coordination, and especially for the patients' own use, a mobile chart can be used. In 2012, the Danish vHL Coordination Group established a national vHL database comprising individuals with vHL and their relatives, as well as individuals examined for vHL. The database is designated to be a treatment and diagnostic instrument, as well as a tool in future vHL research in Denmark.read more
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Book ChapterDOI
Von Hippel-Lindau disease.
TL;DR: Despite advances in early diagnosis and management of VHL disease, life expectancy for VHL patients remains low at 40-52 years and secondary effects from VHL manifestations are mitigated by routine surveillance and early detection.
Journal ArticleDOI
Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Surya P. Rednam,Ayelet Erez,Harriet Druker,Katherine A. Janeway,Junne Kamihara,Wendy Kohlmann,Katherine L. Nathanson,Lisa J. States,Gail E. Tomlinson,Anita Villani,Stephan D. Voss,Joshua D. Schiffman,Joshua D. Schiffman,Jonathan D. Wasserman +13 more
TL;DR: This work proposes a new vHL screening paradigm similar to existing approaches, with important modifications for some tumor types, placing an emphasis on risks in childhood, and recommends advancement in the timing of surveillance initiation and increased frequency of screening evaluations.
Journal ArticleDOI
Epidemiology and screening for renal cancer.
TL;DR: Individual patient risk-stratification based on a combination of risk factors may improve screening efficiency and minimise harms by identifying a group at high risk of RCC by identifying an optimal screening modality and target population.
Journal ArticleDOI
Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome
Sarah M. Nielsen,Lindsay Rhodes,Ignacio Blanco,Wendy K Chung,Charis Eng,Eamonn R. Maher,Stéphane Richard,Rachel H. Giles +7 more
TL;DR: This review will provide state-of-the-art information regarding the genetics of VHL and will serve as a key reference for nongenetics professionals who encounter patients with VHL.
Journal ArticleDOI
Evaluation and management of pancreatic lesions in patients with von Hippel-Lindau disease
Xavier M. Keutgen,Pascal Hammel,Peter L. Choyke,Steven K. Libutti,Eric Jonasch,Electron Kebebew +5 more
TL;DR: The types of pancreatic lesions associated with VHL disease and their natural history are characterized, to identify particular lesions that necessitate treatment, and to define what forms of treatment should be undertaken.