Paraganglioma & Pheochromocytoma Clinic

Overview

This subspecialty clinic is available to children and adults with a confirmed or possible diagnosis of a hereditary susceptibility to paraganglioma or pheochromocytoma.

• Hereditary Paraganglioma-Pheochromocytoma Syndrome (SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127 genes).
• Multiple Endocrine Neoplasia Type 2 (RET gene).
• Von Hippel Lindau Syndrome (VHL gene).

What do we do?

Some patients with a hereditary susceptibility to paraganglioma and pheochromocytoma have health needs for which coordinated visits with multiple subspecialists are helpful. Our clinical team includes healthcare providers who have seen and treated other patients with paraganglioma and pheochromocytoma and are knowledgeable regarding these rare tumors. Our clinical coordinator can discuss your specific needs and help arrange appropriate visits for you.

Our Team

Clinical Geneticist

• John Greskovich, Jr., MD

Endocrine Surgeon

• Eren Berber, MD

Genetic Counselor

• Jessica Marquard, MS, CGC

What to Expect

Before Your Visit

Referral for Genetic Counseling

If your doctor has not already referred you for genetic counseling, please have them order a consult to genetic counseling if they are within Cleveland Clinic. If you are being referred from outside Cleveland Clinic, please have your doctor’s office call us at 216.636.1768 or complete a physician referral form and fax to 216.445.6935.

Physician Referral Form

Medical Records

Before your visit, please make sure to have a copy of the medical records from each healthcare facility where you/your child have undergone treatment, testing, evaluation, surgery, or any other medical procedure. You may send a completed copy of the authorization for the release of medical information from other healthcare facilities to each facility and ask them to send records by fax (if 30 pages or fewer) to 216.445.6935 or postal mail to:

Jessica Marquard, MS, CGC
9500 Euclid Ave. R4
Cleveland, OH 44195
216.217.2492

It would also be helpful to have a list of your local medical providers available to give the clinicians you are seeing so that your medical records from your appointments in Cleveland are sent to everyone you would like to receive a copy.

Traveling to Cleveland

The Medical Concierge service at Cleveland Clinic can assist out-of-state patients organize their travel needs, including hotel recommendations, car rental, and other services.

Other Lodging Information

Maps and Directions

Prior to Your Visit

You may be contacted by Jessica Marquard, our genetic counselor and clinical coordinator, to have a discussion regarding a time frame for your trip and what visits may be helpful to you based on your personal medical history and needs. If you are coming from out-of-town, we will make every effort to coordinate your visits as closely together as possible to help you minimize travel expenses.

At Your Visit

We will provide personalized expert genetic counseling and education to you and your family. During your visit, you will see a genetics expert (genetic counselor and/or clinical geneticist) for a genetics evaluation. You may also be scheduled with other Cleveland Clinic providers with expertise in paraganglioma and pheochromocytoma during your visit depending on your medical needs and physician availability.

Genetic counseling involves:

• Diagnosis of a genetic condition through review of family and medical history, examination by a clinical geneticist, and if appropriate, genetic testing.
• Education about your specific diagnosis and any associated health risks if known.
• Suggestions for future medical care to optimize your health.
• Discussion of health risks to family members.
• Recommendations regarding genetic testing for at-risk family members and coordination of testing, if desired.
• If genetic testing is indicated, blood can usually be drawn on the same day following your appointment.

Following Your Visit

After your visit, it may take anywhere from a few days up to two weeks for your clinical appointment notes to reach the healthcare providers that you requested to receive a copy. We are also glad to communicate with your healthcare providers about your case as needed. You are always welcome to follow up with us with questions regarding your visit.

Hereditary PGL/PC

Paraganglioma and Pheochromocytoma Overview

Up to 30% of paraganglioma and pheochromocytoma are believed to be hereditary. Hereditary susceptibility to PGL and PC can be inherited and can be passed on within a family. When a person has a hereditary susceptibility, he or she has inherited a copy of a susceptibility gene with a mutation from one parent, and a working copy of the same gene from the other parent. Individuals who inherit a mutation in a PGL or PC susceptibility gene have a much greater chance for developing PGL or PC, and in some cases, other tumors and cancers. However, not everyone with a susceptibility gene mutation will develop PGL/PC or cancer.

Features suggesting a hereditary susceptibility to PGL or PC include:

• Early age of diagnosis (i.e., PGL or PC at or before age 45).
• Two or more family members with PGL or PC.
• Multiple or bilateral PGL or PC.
• Abdominal/Thoracic PC outside of the adrenal glands.
• Malignant PC or PGL.
• Other associated diagnoses such as Medullary thyroid cancer; hyperparathyroidism; tumors of the retina, spinal cord, or brain; kidney cancer or cysts; pancreatic tumors or cysts.

Since it is possible for any patient with a PGL or PC to have a susceptibility gene, all patients should consider genetic counseling.

Cost & Insurance

Many insurance plans cover genetic counseling services and visits with medical geneticists. Learn more in Insurance & Billing, including details about coverage, costs and accepted plans.