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Von Hippel-Lindau Disease: A New Approach to an Old Problem

BACKGROUND: Von Hippel-Lindau (VHL) disease is a hereditary, autosomal dominant syndrome which is manifested by a range of different benign and malignant tumors. This disease can present with different clinical presentations such as; retinal angioma (RA), hemangioblastoma (HB) of the central nervous...

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Autores principales: Tootee, Ali, Hasani- Ranjbar, Shirin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3693632/
https://www.ncbi.nlm.nih.gov/pubmed/23843833
http://dx.doi.org/10.5812/ijem.4510
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author Tootee, Ali
Hasani- Ranjbar, Shirin
author_facet Tootee, Ali
Hasani- Ranjbar, Shirin
author_sort Tootee, Ali
collection PubMed
description BACKGROUND: Von Hippel-Lindau (VHL) disease is a hereditary, autosomal dominant syndrome which is manifested by a range of different benign and malignant tumors. This disease can present with different clinical presentations such as; retinal angioma (RA), hemangioblastoma (HB) of the central nervous system (CNS), pheochromocytoma (Pheo), and epididymal cystadenoma. Tumors are usually accompanied with cysts. OBJECTIVES: As the disease can display different clinical presentations, which are mainly unspecific, and considering the importance of an early diagnosis and the proper and early management of it, this study was carried out to present a general overview of VHL. Moreover, the present article reviews screening methods and emphasizes the need for increasing the awareness of different health care professionals to diagnose and refer the patients in the early stages. MATERIALS AND METHODS: A thorough search of internet medical databases, such as PubMed, was carried out on known or suggested; clinical presentations, pathogenesis, screening, causes and criteria for diagnosis of patients and their referrals. RESULTS: Our research demonstrated that VHL is caused by a mutation in the von Hippel-Lindau (VHL) gene. It also showed that different screening methods can be utilized for the early diagnosis and referral of patients. Different clinical presentations of the disease are also elaborated in some detail and their treatment options are discussed. CONCLUSIONS: Considering the need for a multidisciplinary approach to VHL, especially, given the number of cases which have been reported and diagnosed in Iran, it is of great importance that clinicians remain vigilant in order to identify cases that present with clinical characteristics of the disease, and that they are prompt in referring them to a multidisciplinary VHL clinic. It is also important to establish links with existing VHL Family Alliances and other related organizations around the world.
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spelling pubmed-36936322013-07-10 Von Hippel-Lindau Disease: A New Approach to an Old Problem Tootee, Ali Hasani- Ranjbar, Shirin Int J Endocrinol Metab Review Article BACKGROUND: Von Hippel-Lindau (VHL) disease is a hereditary, autosomal dominant syndrome which is manifested by a range of different benign and malignant tumors. This disease can present with different clinical presentations such as; retinal angioma (RA), hemangioblastoma (HB) of the central nervous system (CNS), pheochromocytoma (Pheo), and epididymal cystadenoma. Tumors are usually accompanied with cysts. OBJECTIVES: As the disease can display different clinical presentations, which are mainly unspecific, and considering the importance of an early diagnosis and the proper and early management of it, this study was carried out to present a general overview of VHL. Moreover, the present article reviews screening methods and emphasizes the need for increasing the awareness of different health care professionals to diagnose and refer the patients in the early stages. MATERIALS AND METHODS: A thorough search of internet medical databases, such as PubMed, was carried out on known or suggested; clinical presentations, pathogenesis, screening, causes and criteria for diagnosis of patients and their referrals. RESULTS: Our research demonstrated that VHL is caused by a mutation in the von Hippel-Lindau (VHL) gene. It also showed that different screening methods can be utilized for the early diagnosis and referral of patients. Different clinical presentations of the disease are also elaborated in some detail and their treatment options are discussed. CONCLUSIONS: Considering the need for a multidisciplinary approach to VHL, especially, given the number of cases which have been reported and diagnosed in Iran, it is of great importance that clinicians remain vigilant in order to identify cases that present with clinical characteristics of the disease, and that they are prompt in referring them to a multidisciplinary VHL clinic. It is also important to establish links with existing VHL Family Alliances and other related organizations around the world. Kowsar 2012-09-30 2012 /pmc/articles/PMC3693632/ /pubmed/23843833 http://dx.doi.org/10.5812/ijem.4510 Text en Copyright © 2012, Research Institute For Endocrine Sciences and Iran Endocrine Society http://creativecommons.org/licenses/by/3/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Article
Tootee, Ali
Hasani- Ranjbar, Shirin
Von Hippel-Lindau Disease: A New Approach to an Old Problem
title Von Hippel-Lindau Disease: A New Approach to an Old Problem
title_full Von Hippel-Lindau Disease: A New Approach to an Old Problem
title_fullStr Von Hippel-Lindau Disease: A New Approach to an Old Problem
title_full_unstemmed Von Hippel-Lindau Disease: A New Approach to an Old Problem
title_short Von Hippel-Lindau Disease: A New Approach to an Old Problem
title_sort von hippel-lindau disease: a new approach to an old problem
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3693632/
https://www.ncbi.nlm.nih.gov/pubmed/23843833
http://dx.doi.org/10.5812/ijem.4510
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