Genetics of von Hippel-Lindau Disease Workup

  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Jan 30, 2012
 

Laboratory Studies

Conduct the following annual laboratory studies in individuals with von Hippel-Lindau (VHL) disease, or von Hippel-Lindau syndrome, in patients in whom von Hippel-Lindau disease is suspected, and in relatives who are at risk for von Hippel-Lindau disease:

  • CBC count to look for evidence of polycythemia vera due to erythropoietin expression by renal cysts and cerebellar hemangioblastomas.
  • Measurement of urinary catecholamine metabolites (inclusive of vanillylmandelic acid (VMA), metanephrines and total catecholamines) to detect for pheochromocytomas, even in the absence of hypertension.
  • Urinalysis for hematuria, which can be indicative of a renal abnormality.
  • Urine cytology to detect for clear cell renal carcinoma.
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Imaging Studies

  • Annual abdominal imaging studies are suggested for individuals diagnosed with von Hippel-Lindau disease, for individuals in whom von Hippel-Lindau disease is suspected, and for at-risk relatives of a patient with von Hippel-Lindau disease.
    • Abdominal ultrasound to identify lesions in kidneys, adrenal glands and/or pancreas.
    • CT scanning of the abdomen with and without contrast is recommended for additional clarification of abdominal lesions; however, MRI may be of equal or greater efficacy, depending on expertise of the personnel performing and interpreting these imaging studies.
  • Periodic imaging to detect hemangioblastomas of the brain and spinal cord is usually not required. These tumors are typically benign; therefore, imaging is needed only if concerning neurologic symptoms or signs are present upon examination.
  • The American College of Radiology has established guidelines for the assessment of indeterminate renal masses.[4]
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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: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Erawati V Bawle, MD, FAAP, FACMG  Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Robert Anthony Saul, MD  Clinical Professor, Department of Pediatrics, University of South Carolina School of Medicine; 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.

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 and Genetics, Director RSA, 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.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors James P Evans, MD, PhD and Cecile Skrzynia, MS, CGC, to the original writing and development of this article.

References

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  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.

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  8. 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].

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  18. 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].

  19. 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].

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