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Table 3 VHL protocol for periodic clinical surveillance

From: Von Hippel-Lindau Disease

Investigation

Age, frequency

- patients' history,

- from 10 years old, annually

- physical examination, blood pressure

- from 10 years old, annually

- biochemical blood tests

- from 10 years old, annually

- 24-h urine tests (catecholamines and metanefrines)*

- from 10 years old, annually

- ophthalmological examination

- from 5 years old, annually

- upper abdominal ultrasound

- from 10 years old, annually

- MRI (with gadolinium) cerebellum and myelum

- from 15 years old, two-yearly**

- MRI upper abdomen

- when indicated***

- MRI inner ear

- when indicated****

- audiogram

- when indicated****

- neurological examination

- when indicated

  1. *Accumulating evidence suggests that measurements of plasma-free metanephrines or urinary-fractionated metanephrines (normetanephrine and metanephrine separately) are the most sensitive tests for diagnosis, and are the most suitable for reliable exclusion of phaeochromocytoma [27]. These tests are particularly indicated in VHL type 2.
  2. **Radiosurgical techniques have been developed that enable presymptomatic treatment of solid cerebellar haemangioblastoma [26], which may justify (more frequent) periodical surveillance for these tumours.
  3. ***When an MRI of the myelum is made every two years it is recommended to image the upper abdominal organs simultaneously. In this way the upper abdomen is monitored with ultrasound and MRI in alternate years.
  4. ****When an endolymphatic sac tumour (ELST) is suspected; i.e. hearing loss/deafness, tinnitus, or vertigo [2].