HHT research publications are on the rise. Dr. Carmelo Bernabeu, Chair of the HHT Foundation Global Research and Medical Advisory Board, documented this phenomenon in the 2012 Vol. 1 Direct Connection newsletter. Read Dr. Bernabeu's article; Preview the full list of HHT related publications since 2004.
Clinicians and Scientists from around the world are publishing their findings about HHT mechanisms of disease, links to other "common" medical conditions, and clinical trials testing the efficacy of prescription drugs on HHT symptoms. Through our partnerships, we are able to produce inspiring outcomes within research. The HHT Foundation is grateful for the donors who make these advances possible!
Dr. Rosemary Akhurst, researcher from the University of California - San Francisco, through her HHT Foundation funded study of modifiable genes, researchers can now answer the question, “Why can different members carrying the same mutated gene have different symptoms or severity of symptoms from other family members?" and provide easier pathways for therapeutic agents to treat Pulmonary AVMs. You can read the Full Paper entitled, "Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary hemorrhagic telangiectasia", that was published online on January 10, 2012 in nature communications or the Summary written for the most current edition of the Direct Connection.
Dr. Raj Kasthuri, Hematologist and Director of the University of North Carolina at Chapel Hill HHT Center, recently wrote an article for the Direct Connection entitled, Iron Deficiency in HHT, which details the causes of anemia and the current courses of treatment. The relationship between iron levels (anemia) and blood clots has been explored by several researchers. Dr. Claire Shovlin, Pulmonologist and Director of the HHT Center at NHLI Imperial College in Hammersmith, England, summarized her recently published study linking Low Iron in HHT and Blood Clots. This is an initial study that needs additional funding to validate its' results. In fact, the Centers for Disease Control and Prevention (CDC) is planning to launch a Flickr album devoted to personal stories from people who have had a blood clot. They would like to highlight people who have experienced deep vein thrombosis or pulmonary embolism. In light of Dr. Shovlin's recent publication, there is evidence that this does occur more frequently than previously thought in HHT patients. If you would like to participate and briefly share your story, please email a photo and one or two brief paragraphs about your experience in overcoming and managing your disorder, along with a signed Consent and Release Form, to Cindy Sayers, CDC Health Communications Specialist. You can visit the Clot Connect Website for more information.
Additionally, the HHT Foundation and participating HHT Centers are currently engaged in two critical research studies - the NIH funded Brain AVM Study and the HHT Foundation funded NOSE Study (North American Study of Epistaxis). Both of these studies require patient participation. Read the article published in the latest issue of Direct Connection for a summary of each study, eligibility requirements, and a list of participating HHT Centers. To learn more or to put your name on the list of interested participants, contact Nicole Schaefer, Director of Education and Research Programs, at 800-448-6389 or [email protected].
The Brain AVM Study is half-way through it's five year funding cycle, but the researchers have already seen crucial results. Drs. Aditya Bharatha and Marie Faughnan et al., have published an article, "Brain Arteriovenous Malformation (AVM) Multiplicity Predicts the Diagnosis of HHT" in Stroke, a Journal of the American Heart Association. This discovery will have a tremendous impact on increasing early diagnosis of HHT among the brain AVM population of patients. Early diagnosis, in turn, will reduce catastrophic events that can lead to death and disability. The HHT Foundation is anxiously awaiting this study's final report.
Drug therapy is becoming an option for HHT patients which will significantly increase their quality of life. Bevacizumab, more commonly known as Avastin, is getting a lot of attention in the HHT research community. This drug was originally developed for cancer patients but has since been modified and is being tested to determine it's effectiveness in reducing AVMs in HHT patients. The NOSE Study is examining the efficacy of Avastin, along with two other agents and a placebo, on reducing/eliminating nose bleeds. Dr. Sophie Dupuis-Girod, an HHT Clinician in France, recently published the results of her study, "The Use of Bevacizumab Among HHT Patients with Severe Liver Involvement" in the Journal of the American Medical Association. This summary of her research gives us HOPE that high cardiac output due to severe liver involvement associated with HHT can be reduced or eliminated which means that a liver transplant will no longer be the only option for HHT patients.
Sherri M. Lukes, RDH, MS, in collaboration with Marianne Clancy, Executive Director of the HHT Foundation, wrote an article in Dimensions of Dental Hygiene entitled, "Detecting Hereditary Hemorrhagic Telangiectasia" detailing how dental hygienists can improve health outcomes by recognizing the first symptoms of this genetic disorder. This article is not research based, but the volume of HHT research publications, along with the HHT Foundation's partnership with many health care professional organizations like the American Dental Hygienist Association, is increasing awareness and, ultimately, the diagnosis of HHT. Educate your dental hygienist; Print a copy of this article and take it to your next dental visit.
These research advances, along with many others currently taking place, will lead to future therapies for HHT in the 21st Century. Members of the HHT Foundation receive regular alerts about new clinical trials, findings, and treatments. Please make sure your membership with the HHT Foundation is current. If you are interested in furthering these advances, the HHT Foundation welcomes your donations to FUND exciting NEW PROJECTS!