International Journal of Endocrinology and Metabolism
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.
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.
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.
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.
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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© 2012, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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