Von Hippel-Lindau (VHL) syndrome
What is it?
Von Hippel Lindau Disease (VHL) is an autosomal dominant genetic disorder characterized by benign and malignant neoplasms, such as retinal, cerebellar and spinal cord hemangioblastomas, renal cell carcinoma (RCC), pheochromocytoma and NETs. It is a complex pathology that requires a multidisciplinary approach and the treatment varies depending on the neoplasm developed by the patient, for which there may be indications for surgical and pharmacological treatments. The most frequent neoplasms are:
- hemangioblastomas of the brain (cerebellum) and spine;
- retinal capillary hemangioblastomas (retinal angiomas);
- clear cell renal cell carcinomas (RCC);
- tumors of the endolymphatic sac of the middle ear;
- serous cystadenomas and neuroendocrine tumors of the pancreas;
- papillary cystadenomas of the epididymis and broad ligament.
Which are the symptoms?
The most common sign is retinal hemangioblastomas, which are usually asymptomatic but can cause retinal detachment, macula edema, glaucoma, and vision loss. Central nervous system hemangioblastomas may be symptomatic because of compression of adjacent nerve tissue. In the cerebellum, they are often associated with increased intracranial pressure, headaches, vomiting, and ataxia of the trunk and limbs. Some patients have pheochromocytomas, which may be asymptomatic but cause hypertension.
How is it diagnosed?
Diagnosis is made in the presence of a single characteristic tumor and a positive family history of VHL. In the absence of a family history, the presence of multiple tumors is suggestive. Complete blood count, measurement of urinary catecholamine metabolites, urinalysis, and urinary cytology may reveal polycythemia, presence of pheochromocytoma, urinary abnormalities, and RCC, respectively. Imaging studies are useful to identify renal, CNS, endolymphatic sac tumors, pheochromocytoma, renal and pancreatic cysts.
How is it treated?
When a neoplasm is found, surveillance, surgery and/or medical therapy may be recommended. In case of pheochromocytoma, particular attention is paid to pre-operative drug therapy for blood pressure control.
Where do we treat it?
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