YALE HHT CENTER REPORT JANUARY 2009

2008 was a good year for the Yale HHT Center.  We moved our offices to a much more convenient location in the medical school with excellent access to other members of our HHT team.  Further, Dr. Douglas Ross has accepted a choice job as Chief of Surgery at St. Vincent’s Hospital, 20 minutes from our center.  He will remain an integral part of our HHT Team.  See website www.hhtavm.org for his contact numbers.

Our latest paper, published in March 2008, is an original paper, documenting the natural history of patients with diffuse PAVMs.  As you will recall, 95% of patients with diagnosed PAVMs possess the type of malformation that responds well to arterial occlusion, an interventional radiology technique, perfected at the Yale Center.  Over the past 27 years, we have taken care of over 1000 patients with PAVMs, 35 of whom have a diffuse form of the condition. This smaller subset of patients tends to be more severely affected and require a greater degree of assessment, treatment and follow-up.  I hope that you will read our latest paper with interest, but keep in mind that most patients with PAVMs require follow-up only one year after treatment and then every five years for complete management.

With regard to our progress in managing nosebleeds, we are working very closely with Dr. Douglas Ross in developing new approaches.  Dr. Ross has developed the Yale Nosebleed Severity Index which is a very simple tool used to classify severity of nosebleeds and determine management options.  Transfusion dependent patients are in the “severe’ category and need to be seen and treated aggressively using one of the techniques developed by Dr. Ross.  Adjunctively, these patients require evaluation by our genetic counselor, Katharine Henderson and me, to see if they may be candidates for therapy with a variety of available medicines.  Moreover, any approach to transfusion dependent nosebleeds in adults requires evaluation by our gastroenterologist, Dr. Deborah Proctor. 

Dr. Proctor has contributed greatly to our center and her publications are on our website.  It is our recommendation that routine colonoscopies and endoscopies, be performed at our Yale Center by Dr. Proctor.  We don’t believe that routine ablation of gastrointestinal (GI) telangiectases has any basis, since they are so naturally widespread throughout the GI tract.  Also, while the vast majority of patients with HHT have GI telangiectases, only 5% develop significant bleeding from them.  Once again, Dr. Proctor’s recent publications outlining her success in managing a problematic case of gastrointestinal bleeding can be found on our center’s website.

With regard to managing HHT of the liver, Dr. Guadalupe Garcia-Tsao and Dr. Lawrence Young continue to make progress in this area.  While most people with HHT have liver telangiectases or AVMs which can be seen on a CT scan, most never develop liver symptoms.  We therefore don’t recommend routine screening of the liver.

For older patients requiring therapies for coronary disease or treatment of other heart conditions not related to HHT, I strongly suggest having your heart condition evaluated and overseen by Dr. Young, a cardiologist who has extensive experience in HHT.  Dr. Young should be consulted before any elective cardiac procedures. 

Finally, our new office will provide better access for you to Ms. Henderson and myself, as well as providing our patients better access to the facilities within our center.  A new conference room will also improve our ability to offer private consultations for patients and their families. This move has been in the works for several years and we are delighted by it.  It is going to make your visit to our center easier for all concerned.

Moving forward, our priorities for 2009 are to continue to develop less invasive ways to assess and to follow patients with PAVMs.  Our work with pediatric cardiology and exercise testing has great promise and this is our number 1 priority.  Second, working with Drs. Ross and Proctor, we hope to prove that the Yale approach for managing nosebleeds and gastrointestinal bleeding in patients with HHT is the algorithm that should be followed worldwide.  Finally, it is our intention to continue to develop and teach others in the US and around the world our proven Yale techniques while serving as advocates for patients with HHT.

Again, please visit our website at www.hhtavm.org where under publications, you can click on the titles and read the abstracts of our most recent publications.

On behalf of the faculty and staff of the Yale HHT/AVM Center, I wish you a very happy new year.

Sincerely,

Robert I. White Jr., M.D.
Director, Yale HHT/AVM Center

Katharine Henderson, M.S.
Genetic Counselor, Yale HHT/AVM Center