Othon Iliopoulos, MD, PhD

For you, the children, the natural history of VHL Disease will change, with a totally different and brighter future…Smile. Things are going to be better!

Healthcare Professionals

VHL research has come a long way since the VHL gene was identified in 1993. There is hope more hope than ever for better treatments.


Has your patient been diagnosed with VHL?

Please consider using genetic testing and these suggested referral criteria developed by Dr. Othon Iliopoulos, sponsoring physician of the Comprehensive Clinical Care Center for VHL patients at Massachusetts General Hospital in Boston, MA. Please note, these criteria are used to REFER patients. These are NOT criteria for clinical diagnosis of VHL.

Please note that the VHL Alliance has established a Clinical Care Center (CCC) program which identifies institutions that are experienced in providing outstanding coordinated care for VHL patients. Contact information for each CCC is listed in the Clinical Care Center Directory.


For primary care providers of VHL patients:

Thank you for the important role you play in a VHL patient’s healthcare team. Even though a VHL patient may have a whole team of specialists, a primary care provider is essential.


The VHL Alliance also encourages all PCPs of VHL patients to collaborate with the specialist teams at VHL Clinical Care Centers and for the VHL Clinical Care Centers to keep PCPs updated on patient care. The patient receives the best care when all members of the healthcare team are working together.


Active surveillance is important for anyone living with a chronic disease. However, it is even more important for people living with VHL disease, given the unpredictability of the condition. Early detection, active surveillance and appropriate treatment can greatly reduce the most harmful consequences of this gene mutation.

The VHL Alliance and its Clinical Advisory Council recommend that children who are at risk for VHL should have genetic testing as early as birth. A person is considered “at risk” if they have a biological parent with VHL. If someone has a positive test for VHL, they should follow the Active Surveillance Guidelines.

Early screening includes an eye/retina examination, a hearing test, blood pressure measurement and a neurological assessment. Some manifestations, like kidney tumors, tend to show up later than other manifestations, like retina tumors.

Tertiary Care

VHL disease is different in every person, so there are no universal treatment recommendations. Appropriate treatment options can only be determined by careful evaluation of each patient’s unique situation–symptoms, test results, imaging studies, and general physical condition.

For healthcare providers who do not have very much experience with VHL and are looking to make a referral, please consider the specialists that are members of VHL Clinical Care Centers.  The VHL Alliance or the Point of Contact can help you connect with any specialist that is a member of the VHL team at that particular institution. One can find the list of VHL Clinical Care Centers at: vhl.org/ccc Remember: Early diagnosis and regular screenings are critical to delivering the best treatment.

The specialists that comprise the VHL CCC teams can also be great resources for healthcare providers who have some experience with VHL and are looking for a second opinion for your patient. For the most challenging cases, the VHL Alliance can connect healthcare providers to some of the leading experts in the field of VHL diagnosis and treatment. These clinicians serve on the VHL Alliance’s Clinical Advisory Council and/or are part of the VHLA’s Clinical Care Center program.

For experts in VHL who are interested in establishing a Clinical Care Center at the institution where they work, please download, complete, and submit the application:

We Bring Heart, Soul & Science to the Fight.

We Bring Heart, Soul & Science to the Fight.