This year marks the 20th anniversary of the beginning of the non-profit foundation for hereditary hemorrhagic telangiectasia, which we started in New Haven with 15 patients.
Focus of 2010 Research
- Validation of exercise stress testing (EST) as a reliable method in conjunction with low-dose CT of the lung for follow-up of treated patients with pulmonary arteriovenous malformations (PAVM). This work was completed by Dr. Walter Li, Yale pediatric cardiology fellow, and is in press in Pediatric Cardiology.
- We have started our research with Dr. Takeo Nishida from Osaka, Japan, regarding the natural history of brain arteriovenous malformations in people with HHT. We are building a database of patients with HHT and cerebral arteriovenous malformations in conjunction with the HHT team at Toronto Western Hospital. We have a close relationship with the University of Osaka vascular team, which is led by Dr. Keigo Osuga, who was a fellow at Yale from 2001 to 2002. His work will be presented at the 9th International HHT Scientific Conference, May 2011.
- We are developing guidelines for the management and follow-up of children under 12 with HHT based on 20 years of experience evaluating over 300 children with HHT.
Administrative UpdateKatharine Henderson became the co-director of the program, and Dr. Jeffrey Pollak assumed responsibility as the lead physician of our team treating pulmonary malformations. During the past three years, Katharine Henderson has assumed more and more responsibility for advising patients. Her excellence as a genetic counselor with great clinical skills has not gone unrecognized. I am delighted that she has assumed the role of co-director of the Yale HHT Center. Dr. Jeffrey Pollak’s clinical skills and ability have established him as the natural leader in the management of patients with pulmonary malformations, and he will become co-director of our center with Ms. Henderson in the near future. Dr. Robert I. White has spent most of past 18 months assisting Dr. Pollak in pulmonary AVM management, focusing the center’s research efforts, and managing the budget, which is always tenuous in these uncertain times.
- One of our principal goals is to train personnel in new centers, namely those starting at the University of California Los Angeles and the University of North Carolina. We have enjoyed visits from key individuals from these new centers to learn the logistics of running an HHT center and coordinating the complex issues that patients with HHT encounter.
- We have also worked closely with Yale University establishing a collaborative program with the University of Buenos Aires. This included establishing the first HHT Center in South America.
How You Can Help Us to Continue to Meet the Challenges
- We have a yearly fund drive to raise 150,000 dollars to continue our program, and we hope that you can invest in us so that we can continue to help you and your families. We would hope that families donating to the HHT Foundation would provide matching funds to our center or to the center that follows them regularly. It is key to have support for the dedicated individuals who answer phone calls about specific issues, such as coordination with physicians at home, as well as Yale students and fellows who work on our translational research programs and do their theses with us.
- The Robert I. White Jr. Chair in Interventional Radiology is a goal, and that Chair will be awarded to Dr. Jeffrey Pollak.