eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

von Hippel-Lindau Disease: Treatment & Medication

Author: Germaine L Defendi, MD, MS, FAAP, Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center
Contributor Information and Disclosures

Updated: Apr 20, 2009

Treatment

Medical Care

  • An annual physical examination, with specific attention to possible neurologic manifestations of CNS hemangioblastoma, is suggested for individuals with von Hippel-Lindau (VHL) disease, or von Hippel-Lindau syndrome, for individuals with suspected von Hippel-Lindau disease, or for at-risk relatives.
  • Focal neurologic signs should prompt imaging of the brain, spinal cord, or both. MRI is the preferred modality because of the preponderance of subtentorial and posterior fossa tumors.
  • Medical care for patients with von Hippel-Lindau disease is dictated entirely by the specific complications that are present. Most therapies for complications of von Hippel-Lindau disease are surgical (eg, excision of tumors of the CNS, adrenal glands). Thus, the most crucial aspect of medical care in these patients is close surveillance and prompt evaluation with appropriate imaging.
  • A substantial number of patients eventually require renal dialysis because the presence of tumors necessitates nephrectomy.
  • The increasing knowledge about the molecular role of von Hippel-Lindau proteins (pVHL) has led to clinical trials of several antiangiogenic drugs designed to reduce or prevent tumorigenesis in von Hippel-Lindau disease. These drugs remain under investigation and are not available outside of a research protocol.
  • Annual ophthalmologic examination is recommended because of the risk for retinal hemangioblastomas.

Surgical Care

Surgery is the mainstay of treatment for tumors that arise in patients with von Hippel-Lindau disease. The standard of care is organ-sparing surgery.

  • The most significant life-threatening tumor that occurs in individuals with von Hippel-Lindau disease is renal cell carcinoma. Partial nephrectomy or radiofrequency ablation is preferred to spare renal function, if tumor involvement is not extensive. However, total nephrectomy is often necessary because of extensive tumor involvement.
  • Since multiple primary tumors are common in von Hippel-Lindau disease, bilateral nephrectomies may ultimately be required. Bilateral nephrectomies necessitate renal dialysis or transplantation.
  • CNS hemangioblastomas are typically not malignant; thus, they can be monitored if their size is stable and they are not producing neurologic symptoms or signs. However, if these tumors cause neurologic symptoms, neurosurgical excision is required.
  • Retinal hemangioblastomas should be monitored by an ophthalmologist. Treatment typically consists of laser treatment or cryotherapy to preserve vision.

Consultations

Consult a geneticist or genetic counselor when dealing with an individual or family in which von Hippel-Lindau disease has been diagnosed. Genetic counseling is critical because this diagnosis may impact family members who are at risk and because the interpretation of genetic testing is often complex.

As a result of the multiorgan nature of this disease, the following specialists should be involved in the patient's care:

  • Consult an ophthalmologist because of the risk of retinal hemangioblastoma.
  • Obtain consultations with surgeons as needed, depending on the results of surveillance studies as detailed elsewhere in this article. Typically, a nephrologist and/or urologist are consulted with regard to the discovery of renal masses, and neurosurgeons are consulted with concerns about CNS masses.
  • An endocrinologist to assist in the surveillance and interpretation of laboratory testing for pheochromocytoma.

Diet

Dietary guidelines for patients with von Hippel-Lindau disease have been recommended by the VHL Family Alliance. These guidelines rely more on expert opinion and common sense than on randomized trials. The VHL Family Alliance encourages patients with von Hippel-Lindau disease and at-risk family members to do the following:

  • Limit alcohol intake.
  • Increase consumption of phytochemicals, such as grains, cruciferous and other vegetables, fruits, and spices.
  • Decrease consumption of protein from fish, poultry, and meat.

Activity

  • No evidence suggests that people with von Hippel-Lindau syndrome should limit their physical activities, except for short periods of recuperation after surgeries.
  • Moderate exercise is likely beneficial to most.

More on von Hippel-Lindau Disease

Overview: von Hippel-Lindau Disease
Differential Diagnoses & Workup: von Hippel-Lindau Disease
Treatment & Medication: von Hippel-Lindau Disease
Follow-up: von Hippel-Lindau Disease
Multimedia: von Hippel-Lindau Disease
References
[ CLOSE WINDOW ]

References

  1. Turturro F. Beyond the Knudson's hypothesis in von Hippel-Lindau (VHL) disease-proposing vitronectin as a "gene modifier". J Mol Med. Apr 8 2009;[Medline].

  2. Krzysztolik K, Cybulski C, Sagan L, Nowacki P, Lubinski J. Endolymphatic sac tumours and von Hippel-Lindau disease - case report, molecular analysis and histopathological characterization. Folia Neuropathol. 2009;47(1):75-80. [Medline].

  3. Boedeker CC, Erlic Z, Richard S, et al. Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2. J Clin Endocrinol Metab. Mar 31 2009;[Medline].

  4. Israel GM, Francis IR, Baumgarten DA, et al. Indeterminate renal mass. Reston, VA: ACR; 2007.

  5. Chan-Smutko G, Plon SE, Iliopoulos O. Clinical features, diagnosis, and management of von Hippel-Lindau disease. UpToDate. Available at www.utdol.com/online/content/topic.do?topicKey=brain_ca/15247. Accessed 01/06/2009.

  6. Decker HJ, Weidt EJ, Brieger J. The von Hippel-Lindau tumor suppressor gene. A rare and intriguing disease opening new insight into basic mechanisms of carcinogenesis. Cancer Genet Cytogenet. Jan 1997;93(1):74-83. [Medline].

  7. Huson SM, Rosser EM. Von Hippel-Lindau disease. In: Rimoin DL, Connor JM, Pyeritz RE, Emery AE, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 3rd ed. Churchill Livingston; 1996:2290-5.

  8. Johns Hopkins University. #193300. OMIM. Available at http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193300. Accessed June 3, 2002.

  9. Khan AN, Turnbull I, MacDonald S, Al-Okaili R. Von Hippel-Lindau Syndrome. eMedicine from WebMD. Available at emedicine.medscape.com/article/385704. Accessed January 6, 2009.

  10. Kim WY, Kaelin WG. Role of VHL gene mutation in human cancer. J Clin Oncol. Dec 15 2004;22(24):4991-5004. [Medline].

  11. Lindor NM, Greene MH. The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst. Jul 15 1998;90(14):1039-71. [Medline].

  12. Maher ER, Kaelin WG Jr. von Hippel-Lindau disease. Medicine (Baltimore). Nov 1997;76(6):381-91. [Medline].

  13. Richards FM, Webster AR, McMahon R, et al. Molecular genetic analysis of von Hippel-Lindau disease. J Intern Med. Jun 1998;243(6):527-33. [Medline].

  14. Schimke NR, Collins DL, Stolle CA. Von Hippel-Lindau Syndrome. GeneReviews. Available at www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vhl. Accessed January 6, 2009.

  15. Schimke RN, Collins DL, Stolle CA. von Hippel-Lindau Syndrome. GeneTests GeneClinics. Available at http://www.geneclinics.org. Accessed December 1, 2004.

  16. Schoenfeld AR, Davidowitz EJ, Burk RD. Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products. Proc Natl Acad Sci U S A. Jul 18 2000;97(15):8507-12. [Medline]. [Full Text].

  17. Sun X, Kanwar JR, Leung E, Vale M, Krissansen GW. Regression of solid tumors by engineered overexpression of von Hippel-Lindau tumor suppressor protein and antisense hypoxia-inducible factor-1alpha. Gene Ther. Dec 2003;10(25):2081-9. [Medline].

  18. VHL Family Alliance. Available at www.vhl.org/aboutvhlfa/index.php. Accessed January 6, 2009.

  19. Von Hippel-Lindau disease. Wikipedia. Available at en.wikipedia.org/wiki/Von_Hippel-Lindau_disease. Accessed 01/06/2009.

  20. Von Hippel-Lindau syndrome. Genetics Home Reference. Available at ghr.nlm.nih.gov/condition=vonhippellindausyndrome. Accessed January 6, 2009.

  21. Von Hippel-Lindau Syndrome. OMIM. Available at www.ncbi.nlm.nih.gov. Accessed February 20, 2009.

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

von Hippel-Lindau disease, von Hippel-Lindau syndrome, VHL syndrome, VHL, von Hippel-Lindau's disease, Hippel disease, Hippel's disease, Hippel-Lindau disease, VHL gene, chromosome 3, 3p26-p25, VHL proteins, pVHL, Knudson's theory of carcinogenesis, retinocerebral angiomatosis, Lindau disease, Lindau's disease, retinal hemangioblastomas, CNS hemangioblastomas, central nervous system hemangioblastomas, pheochromocytomas, renal cyst, pancreatic cyst, renal carcinoma, renal cancer, renal cell carcinoma, RCC, endolymphatic sac tumors, ELSTs, epididymal papillary cystadenomas, treatment, diagnosis, retinal detachment, macular edema, glaucoma, tinnitus

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Germaine L Defendi, MD, MS, FAAP, Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center
Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: Ambulatory Pediatric Association and American Academy of Pediatrics
Disclosure: Nothing to disclose.

Medical Editor

Erawati V Bawle, MD, FAAP, FACMG, Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan; Professor (Clinician-Educator), Department of Pediatrics, Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.