Table 1.

Von Hippel-Lindau Syndrome Clinical Diagnostic Criteria

VHL Published Diagnostic CriteriaClinical Diagnostic CriteriaVHL-Related Manifestations
Positive family historyNo known family historyIncluded in all 3 published criteriaSpecific to published criteria
Dutch criteria 1 1 VHL-related tumor
AND
1st- or 2nd-degree relative w/diagnosis of VHL		≥2 VHL-related manifestations
  • Retinal HB
  • CNS HB
  • RCC
  • Pheo
  • PNET
  • ELST
  • Paraganglioma
  • Multiple kidney cysts
  • Multiple pancreatic cysts
Danish criteria 2 ≥1 VHL-related manifestation
AND
1st-degree relative w/diagnosis of VHL		≥2 HB
OR
1 HB & 1 VHL-related manifestation		None

CNS = central nervous system; ELST = endolymphatic sac tumor; HB = hemangioblastoma; Pheo = pheochromocytoma; PNET = pancreatic neuroendocrine tumor; RCC = renal cell carcinoma; VHL = von Hippel-Lindau syndrome

1.
2.

From: Von Hippel-Lindau Syndrome

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