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von Hippel–Lindau Disease

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Surgical Endocrinopathies

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Abstract

von Hippel–Lindau (vHL) is an autosomal dominant heritable disorder that results in the formation of multiple tumors including neuraxial hemangioblastoma, retinal hemangioblastoma, endolymphatic sac tumors, pheochromocytoma, extra-adrenal paraganglioma, renal cell carcinomas, pancreatic cysts, pancreatic neuroendocrine tumors, epididylmal cystsadenomas, and broad ligament cystadenomas. Multiple different causative mutations have been described resulting in different patterns of neoplasia development. These lesions are more frequently multifocal, recurrent, and present at a younger age than the equivalent sporadic forms of these lesions.

Effective screening guidelines and management in vHL clinical care centers has resulted in improved life expectancy for these patients. Established guidelines include scheduled imaging and clinical evaluations starting at any early age and are based on the expected age of emergence of these neoplasias. Many vHL-associated lesions will require surgical intervention. Making decisions for when to intervene, and on which lesions to intervene during a given operation is best accomplished in the setting of organized clinical care centers, as recognized by the vHL Family Alliance. The endocrine surgeon is an essential part of the care of these patients.

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Authors and Affiliations

  1. Department of Surgery, University of Virginia, Box 800709, 22908, Charlottesville, VA, USA

    Adriana G. Ramirez MD & Asst Prof Philip W. Smith MD

Authors
  1. Adriana G. Ramirez MD
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  2. Asst Prof Philip W. Smith MD
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Correspondence to Philip W. Smith MD .

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Editors and Affiliations

  1. Divisions of General Surgery and Surgical Oncology, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada

    Janice L. Pasieka

  2. Department of Surgery, Columbia University Medical Center, New York, New York, USA

    James A. Lee

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Ramirez, A., Smith, P. (2015). von Hippel–Lindau Disease. In: Pasieka, J., Lee, J. (eds) Surgical Endocrinopathies. Springer, Cham. https://doi.org/10.1007/978-3-319-13662-2_56

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  • DOI: https://doi.org/10.1007/978-3-319-13662-2_56

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