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  • 10/31/2009
    Gainesville, FL 9:00AM ~ 1:00PM

News


SUGGESTED SCREENING* GUIDELINES FOR Von Hippel-Lindau Syndrome (VHL)


(*Clinical evaluations of individuals at risk for VHL. Also see: Lonser RR, Glenn GM, Walther ML, et al: The Lancet Vol 361, June 14, 2003; and Choyke, Glenn, Walther, et al: Radiology. 194:629-642, 1995.)

Any Age: Families are informed they may choose a Genetic Counselor if they wish testing for a mutation causing VHL in their family members, e.g., by contacting the Molecular Genetics Laboratory, Children’s Hospital of Philadelphia, Pennsylvania, or another CLIA approved Genetic Testing Laboratory.

Before any type of surgery or childbirth labor or delivery, rule out pheochromocytoma, a tumor most often arising in adrenal glands

From Conception: Inform Obstetrician of VHL and need to rule out pheochromocytoma

From Birth: Inform Pediatrician of family history of VHL. Eye exams yearly by Pediatric Ophthalmologist informed about VHL

Ages 2-8: Yearly: Eye/retinal examination by Ophthal-mologist informed about VHL. Physical with neurologic examination, and blood pressure measurements by Pediatrician informed about VHL. Measure plasma or 24-hour urinary catecholamines & metanephrines If clinically indicated, abdominal ultrasound or MRI, or craniospinal axis MRI.

Ages 8-18: Every 6 months: Eye/retinal examination by Ophthalmologist informed about VHL. Yearly: Physical with neurologic examination, blood pressure measurements and review of systems by Physician informed about VHL Measure plasma or 24-hour urinary catecholamines & metanephrines Ultrasound of abdomen (kidneys, pancreas, adrenals); if indicated abdominal MRI.

From Age 11: MRI of craniospinal axis pre- and post-contrast

Age 18 & older: Yearly: Eye/retinal examination by Ophthalmologist informed about VHL. Physical with neurologic examination, blood pressure measurements and review of systems by Physician informed about VHL. CT of abdomen & pelvis (kidneys/pancreas/adrenals) pre- & post-i.v. contrast. Measure plasma or 24-hour urinary catecholamines & metanephrines MRI of craniospinal axis pre- and post-contrast

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