Von Hippel–Lindau disease (VHL) is a disease which results from a mutation in the von Hippel–Lindau tumor suppressorgene on chromosome 3p25.3. VHL disease can be subdivided according to the clinical manifestations, although these groups often correlate with certain types of mutations present in the VHL gene.
Signs and symptoms associated with VHL disease include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Conditions associated with VHL disease include angiomatosis,hemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts(pancreatic serous cystadenoma), endolymphatic sac tumor, and bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women). Angiomatosis occurs in 37.2% of patients presenting with VHL disease and usually occurs in the retina. As a result, loss of vision is very common. However, other organs can be affected: strokes, heart attacks, and cardiovascular disease are common additional symptoms. Approximately 40% of VHL disease presents with CNS hemangioblastomas and they are present in around 60-80%. Spinal hemangioblastomas are found in 13-59% of VHL disease and are specific because 80% are found in VHL disease. Although all of these tumours are common in VHL disease, around half of cases present with only one tumour type.
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dias r, dave n, garasia m. dexmedetomidine for anaesthetic management of phaeochromocytoma in a child with von hippel-lindau type 2 syndrome. indian j anaesth [serial online] 2015 [cited 2017 jan 27];59:319-21. available from: http://www.ijaweb.org/text.asp?2015/59/5/319/156891
https://www.hindawi.com/journals/gri/2016/9872594/ gautham arunachal, divya pachat, c. george priya doss, sumita danda, rekha pai, and andrew ebenazer, “molecular characterization of a novel germline vhl mutation by extensive in silico analysis in an indian family with von hippel-lindau disease,” genetics research international, vol. 2016, article id 9872594, 9 pages, 2016. doi:10.1155/2016/9872594
https://www.hindawi.com/journals/criu/2013/624096/ p. vaganovs, k. bokums, e. miklaševics, et al., “von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma,” case reports in urology, vol. 2013, article id 624096, 5 pages, 2013. doi:10.1155/2013/624096
https://www.hindawi.com/journals/crim/2012/659104/ tarik esen, ömer acar, ahmet tefekli, ahmet musaoglu, izzet rozanes, and ali emre, “adrenal cortex-sparing surgery for bilateral multiple pheochromocytomas in a patient with von hippel-lindau disease,”case reports in medicine, vol. 2012, article id 659104, 5 pages, 2012. doi:10.1155/2012/659104