|
|
 |
Handout for Doctors, from the VHL Clinic, National Institutes of Health
At her talk given at the Fourth International Patient/Provider Conference on von Hippel-Lindau, Seattle, June 1998, Dr. Gladys Glenn distributed copies of the following three pages, which she routinely sends to doctors who inquire about treatment for a patient with VHL. Please note: these recommendations have been incorporated into the VHL Handbook and updated based on further research at NIH and worldwide. Click here for updated recommendations.
From the Department of Health & Human Services
May 3, 1997RE: Diagnosed and At-Risk Family Members and von Hippel-Lindau Disease (VHL)Dear Doctor: Multiple benign and malignant tumors may develop during the lifetime of individuals affected by von Hippel-Lindau disease (VHL). It is not possible to predict which persons who have one manifestation of VHL will develop more VHL tumors and cysts. Significant disease can be present before onset of symptoms, therefore it is necessary to perform periodic examinations and screening tests for early detection of the disease. Age at onset of diagnosis varies from early childhood up through the eighth decade of life. Clinical testing should begin in early childhood with eye examinations of infants by an Ophthalmologist who, along with the Pediatrician, should be informed of VHL in the family's medical history. VHL tumors and cysts tend to be multiple and bilateral and vary widely in clinical severity. Affected individuals will have one or more of the manifestations which include: Hemangioblastomas of brain (esp. cerebellum) and spinal cord; endolymphatic sac tumors (ELSTs); retinal angiomas; renal cell carcinomas and cystic masses; pheochromocytomas; epididymal cystadenomas, pancreatic islet cell tumors, cystadenomas and cysts; and an adenocarcinoma of the pancreas has been reported. See the medical literature on VHL for detailed reports. Comprehensive baseline testing is important for at-risk family members who have never had clinical screening for VHL.
We have found the following tests to be highlyeffective in detecting VHL lesions:(1) Magnetic resonance imaging (MRI) of head and spine, performed on separate days, using T1 weighted imaging pre and post-Gadolinium contract;
(2) Computerized Tomography (CT) of the abdomen, pre- and post-contrast, in adult males and nonpregnant females 20 years of age and older (ultrasound of the abdomen in children);
(3) Scrotal ultrasound in males;
(4) Ophthalmologic examination of the retina may require fluorescein angioscopy and tonometry;
(5) 24 hour urine collection test for catecholamines (epinephrine, norepinephrine, and dopamine), VMA, and metanephrine; and
(6) Medical history and physician examination aimed at detection of known VHL manifestations include emphasis on the neurologic examination and also scrotal examination, because affected males often have palpable bilateral cystadenomas, to be distinguished from simple cysts that are common in males, and
(7) If there are hearing abnormalities, tinnitus or vertigo, these are indications for audiologic assessment, and internal auditory canal imaging by MRI and/or CT. Physical and eye examinations and abdominal imaging should be annual; other tests may be every 2-3 years or sooner if clinically indicated.
VHL is an autosomal dominantly inherited disease which means that every male and female child, who has one genetic parent with the VHL disease gene, has a 50% chance of also inheriting the disease gene gene and the potential for developing clinical VHL. DNA diagnostic testing may identify family members who have or who will develop VHL. VHL gene mutations that predispose to development of VHL tumors and cysts, are different from one family to another, and have been identified in many families tested.* Genetic counseling is obtained before genetic testing. A number of different specialists may be required to care for patients with this challenging disease. If I can be of further assistance, please contact me.
Suggested Reading:(1) Lamiell, JM, et al,: Medicine 69(1):1-29, 1989. (2) Glenn GM et al.: Problems in Urology 4(2):312-330, 1990. (3) Choyke PL et al: Radiology 194:629-642, 1995.
*NOTE: Blood tests are available now for many families through the Genetic Diagnostic Center, University of Pennsylvania School of Medicine (Tel. 1-215-573-9161 and 1-800-669-2172)
G. Glenn, 5/97
Suggested Screening* Guidelines for
|
| Any Age | Families are informed that if they choose they and their Genetic Counselor may contact Univ. of Pennsylvania Genetic Testing Lab for DNA testing of families whose genetic alteration is detectable.
Before any type of surgery or childbirth procedures, rule out tumors of the adrenal gland called pheochromocytomas.
|
| From Conception | Inform Obstetrician of family history of VHL
|
| From Birth | Inform Pediatrician of family history of VHL. Eye examinations.
|
| Ages 2-10 | Annual:
|
| Ages 11-19 | Annual:
|
| Age 20 and beyond | Annual:
|
NOTE:
1. Slight modifications of screening schedules may sometimes be made by personal physicians familiar with individual patients and with their VHL family history.
2. After age 60, if no children with VHL and still not diagnosed, imaging tests may be every two years for CT and every 3 years for MRI.
3. All head MRIs should be examined by Radiologists for any suggestion of ELST (endolymphatic sac tumor). If suspicious, or at first sign or symptom of hearing loss, tinnitus or vertigo, MRI or CT of internal auditory canal and audiologic tests are indicated.
- G. Glenn, 5/97
Testing Blood for a VHL Gene Mutation
Most families (not yet all families) affected by von Hippel-Lindau disease (VHL) have disease-causing mutations in the VHL gene which can be detected.
If you or your family is interested in testing:
Obtain a Geneticists to work with your family.
Tell the Geneticist you want them to coordinate the VHL genetic testing for your family.
Tell the Geneticist you wish pre-test counseling about the risks and benefits of a genetic diagnosis, and post-test counseling when results are given.
The Geneticist will obtain your family's history of VHL.
Give the Geneticist the names of the following contact persons at the Genetics Laboratories who will:
1. Determine whether the test can be carried out, and
2. Determine what family members' blood should be tested.
The Geneticists should contact:
Catherine Stolle, Ph.D., FACMG ** previously at University of Pennsylvania
Molecular Genetics Laboratory
The Children's Hospital of Philadelphia
Abramson Research Center 1106F
34th & Civic Center Boulevard
Philadelphia, PA 19104
Phone: +1 215 590-8736, +1 800 669-2172
Fax: +1 215 590-2156
E-Mail: stolle@email.chop.edu
Presented at a talk given by Dr. Glenn at the 4th International Patient/Provider Conference on Von Hippel-Lindau, Seattle, Washington, June 1998. Go to the agenda for the meeting.
| Contact Us | Copyright 1993-2008 |