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Von Hippel-Lindau Syndrome

Jeremy Golding, FAAFP, MD Reviewed 04/2024
 


BASICS

DESCRIPTION

Von Hippel-Lindau (VHL) disease is a hereditary syndrome with known gene mutations of the VHL gene, which manifests as benign lesions (renal cysts, inner ear, temporal bone) and mali...

DIAGNOSIS

HISTORY

  • Ascertain a proper family history of anyone presenting with previously described symptoms/lesions.

  • VHL may manifest in various organs, so it is important to do a complete review of sys...

TREATMENT

MEDICATION

  • Treatment of VHL disease depends on the lesion or tumor identified.

  • Systemic treatment is recommended in the metastatic setting.

  • VEGF receptor inhibitor, sunitinib, has shown some be...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

The following are recommended for those found to have VHL gene variations: 
  • 1 to 4 years old

    • Annual ophthalmologic, endocrine (24-hour urine catecholamines and meta...

REFERENCES

1
Tang  PA, Vickers  MM, Heng  DY. Clinical and molecular prognostic factors in renal cell carcinoma: what we know so far. Hematol Oncol Clin North Am. ...

ADDITIONAL READING

VHL Alliance: http://vhl.org/  

CODES

ICD10

Q85.8 Other phakomatoses, not elsewhere classified 

SNOMED

46659004 von Hippel-Lindau syndrome (disorder) 

CLINICAL PEARLS

  • Patients diagnosed with any of the associated conditions (CNS or ocular hemangioblastomas, ELSTs of the ear, conventional clear RCC, pheochromocytoma, pancreatic neuroendocrine tumor a...

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