Von Hippel-Lindau (VHL) syndrome
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.