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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : -23 مورد

Surveillance for VHL disease-associated tumors in individuals with a pathogenic or likely pathogenic variant in VHL

Surveillance for VHL disease-associated tumors in individuals with a pathogenic or likely pathogenic variant in VHL
Tumor(s) under surveillance Surveillance modality Age to initiate Interval Comments
All tumors associated with VHL disease History and physical examination by physician informed about VHL disease 1 year Every year
  • On history, a review of systems (as appropriate, based on the age of the patient) includes neurologic symptoms, auditory and vestibulo-neural symptoms, visual symptoms, abdominal pain, and symptoms of catecholamine excess (headaches, palpitations, diaphoresis, hyperactivity, anxiety, polyuria).
Retinal hemangioblastoma Dilated retinal examination Before 1 year Every 6 to 12 months
  • Reduce frequency to annually after age 30. Testing is continued beyond age 65.
Pheochromocytoma/paraganglioma Blood pressure and pulse 2 years Every year
  • Hypertension and tachycardia that are otherwise unexplained are suggestive of pheochromocytoma and should prompt laboratory testing.
Plasma or 24-hour urine metanephrines 5 years Every year*¶
  • Plasma-free metanephrines are preferred, but 24-hour urine fractionated metanephrines can be used.
CNS hemangioblastoma MRI of the brain and spine 11 years Every 2 years*
  • Performed with and without contrast (without contrast if pregnant).
  • Can be coordinated with MRI of the abdomen.
  • Include thin cuts through the posterior fossa and petrous temple bone.
Endolymphatic sac tumors of the middle ear Audiology 11 years Every 2 years*  
MRI of the internal auditory canal 15 years One time
  • Can be coordinated with MRI of the brain and spine.
  • Renal cell carcinoma
  • Pheochromocytoma/paraganglioma
  • Pancreatic cysts and neuroendocrine neoplasms
 MRI of the abdomen 15 years Every 2 years*
  • Performed with and without contrast (without contrast if pregnant).
  • Assess kidneys, pancreas, and adrenal glands.
  • Can be coordinated with MRI of the brain and spine.
This table is based on 2020 guidelines from the VHLA. It only refers to surveillance of asymptomatic individuals with VHL disease. Any individual with symptoms or findings of a specific tumor should be evaluated in a timely fashion. For further details, refer to UpToDate content on VHL disease.
  • Any symptoms or signs of disease should be investigated promptly, regardless of age.
  • For patients planning pregnancy, surveillance testing should ideally be performed prior to conception. Regular retinal examinations, physical examination (including blood pressure and pulse), and laboratory testing should continue during pregnancy. If MRI is performed, contrast should be avoided and only noncontrast images obtained.
  • Counseling should be made available at any age to all individuals, including the affected person, their family/caretakers, and their first-degree relatives.
  • For further details, refer to the source document on the VHLA website and to UpToDate content on VHL disease.

CNS: central nervous system; MRI: magnetic resonance imaging; VHL: von Hippel-Lindau; VHLA: VHL Alliance.

* Stop testing at age 65 for patients who have never been diagnosed with the tumor under surveillance.

¶ For pregnant patients with VHL disease who did not receive surveillance for pheochromocytoma prior to conception, plasma metanephrines and normetanephrines are generally tested in the first trimester and then early in the third trimester of pregnancy.
Adapted from: VHLA Suggested Active Surveillance Guidelines 2020. Available at: https://www.vhl.org/clinicians/surveillance/ (Accessed on April 29, 2020).
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