Guidelines for surveillance of patients with von Hippel‐Lindau disease: Consensus statement of the International VHL Surveillance Guidelines Consortium and VHL Alliance

Abstract

Von Hippel‐Lindau (VHL) disease is a rare inherited cancer‐predisposition syndrome. The authors report the updated recommendations for the multiorgan surveillance protocols.

Predictors of Progression in a Series of 81 Adult Patients Surgically Managed for an Intracranial Hemangioblastoma: Implications for the Postoperative Follow-Up

“…In patients with VHL disease, the European and North American guidelines [26,27] recommend performing annual monitoring indefinitely, in accordance with the risk of local but also distant progression, which can occur later than the former, as illustrated in the present series.…”

“…In patients with VHL disease, the European and North American guidelines [26,27] recommend performing annual monitoring indefinitely, in accordance with the risk of local but also distant progression, which can occur later than the former. This monitoring includes a neurological examination and a cranio-spinal MRI scan every year, in addition to a clinical eye inspection, a hearing exam, and a plasma metanephrin and normetanephrine dosage [26,27].…”

New Prospects on Neuroimaging in Von Hippel Lindau Disease—A Narrative Review

“…CT is also used to evaluate bone destruction in ELST tumors for surgical planning. CT is not recommended for screening and imaging of hemangiomas in the central nervous system and retina due to VHL [3]. There are sporadic reports of CT use in cases of subarachnoid hemorrhage secondary to hemangioblastomas in VHL [14].…”

“…Other locations of possible tumors include retinal hemangioblastomas (RH), renal clear cell carcinoma (RCC), pheochromocytomas (PPGL), pancreatic neuroendocrine tumors (PNET), and endolymphatic sac tumors (ELST)-a rare type of neuroectodermal tumor of the endolymphatic sac and duct [2]. The VHL Surveillance Guidelines Consortium and VHL Alliance have established consensus guidelines for the management of patients with von Hippel-Lindau (VHL) syndrome or at-risk (children of VHL patients) [3]. Table 1 presents a simplified scheme of screening tests.…”

“…Patients with progressive hemangiomas or enlarging peri-tumor cysts may require more frequent MRI to guide and/or modify treatment. The appearance of new CNS-related symptoms during the interval should prompt further MRI [3]. MRI-based screening and surveillance of asymptomatic patients should begin at age 11 and be completed in most patients by age 65 [11].…”