Skip to main content

Von Hippel-Lindau Syndrome

Reviewed 06/2018
 


BASICS

DESCRIPTION

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

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.  2011;25(4):871–891. [View Abstract ...

ADDITIONAL READING

VHL Alliance: http://vhl.org/ 

CODES

ICD10

Q85.8 Other phakomatoses, not elsewhere classified 

ICD9

759.6 Other hamartoses, 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...

Subscribe to Access Full Content

Sign Up for a 10-Day Free Trial

Sign up for a 10-day FREE Trial now and receive full access to all content.

×