Conclusiones. Es importante para el urólogo el conocimiento básico de la enfermedad de von Hippel-Lindau porque las manifestaciones genitourinarias de ella. Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell. Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of .

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Von Hippel-Lindau disease | Radiology Reference Article |

The German ophthalmologist Eugen von Hippel first described angiomas in the eye in Pheochromocytomas are usually located in one or both adrenal glands. Starting at age five years: Similar in etiology, paragangliomas can develop along the sympathetic axis in the abdomen or thorax [ Schimke et alBoedeker et al ]; these tumors are often nonfunctional i. A case study showed complete loss of stromal cells after a standard dose of SRS for hemangioblastoma, indicating the effectiveness of the treatment [ Nambu et al ].

Von Hippel-Lindau VHL syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts.

X-linked spinal muscular atrophy 2 E3: Sardi et al [] reported three-year stabilization of previously progressive multifocal spinal hemangioblastomas with thalidomide.

Pilot study of dovitinib in patients with von Hippel-Lindau disease. Molecular genetic testing is recommended for the parents of a proband hippell an apparent linadu novo pathogenic variant. Pathogenic variants in VHL either prevent its expression i. You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. The incidence of germline mosaicism is as-yet unknown. For CNS hemangioblastomas and visceral lesions, starting age was in line with current surveillance guidelines.


Photocoagulation and cryotherapy are usually used for the treatment of symptomatic retinal angiomas, although anti-angiogenic treatments may also be an option. It is inherited, which means that it is passed down from parent to child. Prevention of Secondary Manifestations Early detection through surveillance and removal of tumors may prevent or minimize deficits such as hearing loss, vision loss, neurologic symptoms, and the need for renal replacement enermedad.

Vertigo ilndau tinnitus is the presenting complaint. Hum Mutat, 8pp. Multiple and bilateral renal cysts are common in individuals with VHL syndrome [ Lonser et al ]. American Society of Clinical Oncology.

While most centers would consider decisions regarding prenatal testing to be the choice of the parents, discussion of these hippdl is appropriate. If the VHL pathogenic variant in the proband is not known, ophthalmologic screening and abdominal ultrasound evaluation, at a minimum, should be offered to both parents. Endolymphatic sac tumors are rarely malignant [ Muzumdar et al ]. As ophthalmologic screening for those at risk for VHL syndrome begins as early as possible, certainly before age five years, molecular genetic testing may be considered in young children.

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Von Hippel–Lindau disease

Such ed may be at increased risk of developing into pheochromocytomas at a later stage [ Lee et alKaelin ]. For this reason, individuals with VHL disease are usually screened routinely for retinal angiomas, CNS hemangioblastomas, clear-cell renal carcinomas and pheochromocytomas.

In this situation, hkppel presumably at-risk family member has a small, but finite, residual risk of having inherited a pathogenic allele i. Am J Med Genet A. Ann Pathol, 16pp.

The use of molecular genetic testing for determining the genetic status of presumably at-risk relatives when a family member with a clinical diagnosis of VHL syndrome is not available for testing is not straightforward. Familial erythrocytosis type 2 OMIM is characterized by increased circulating vom blood cell mass, increased serum levels of erythropoietin, and normal oxygen affinity.


Pathogenic truncating or missense variants that are predicted to grossly disrupt the folding of the VHL protein [ Stebbins et al ] are associated with VHL type 1. Antiangiogenic therapy for von Hippel-Lindau disease. The detection of tumours specific to VHL disease is important in the disease’s diagnosis.

Parental mosaicism has been described; the incidence is not known. Pancreatic tumors are generally slow growing and are not hormonally active, although they can cause metastatic disease. No additional families with VHL hypermethylation have been identified.

Pazopanib showed favorable effects on the clinical condition of individuals with recurrent and rapidly progressive VHL-associated hemangioblastomas [ Migliorini et al ]. As a result, loss of vision is very common.

Von Hippel–Lindau disease – Wikipedia

Cancer Res, 58pp. As all the tumours associated with VHL disease can be found sporadically, at least two tumours must be identified to diagnose VHL disease in a person without a family history. Adrenal-sparing surgery could be considered and has been regarded as a successful treatment option.

For a detailed summary of gene and protein information, see Table AGene. Central nervous system manifestations in VHL: Surgical management of endolymphatic hilpel tumors. Limdau outcomes of renal tumor radio frequency ablation stratified by tumor diameter: Psychosocial impact of Von Hippel-Lindau disease: Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution.