There are so many of us that are suffering from Hereditary Hemorrhagic Telangiectasia (HHT) and we can't get enough help. We are asking and pleading to be able to get someone to help us stand up for ourselves to get awareness out there to get proper medical attention. We need help. We are suffering daily from this genetic disorder and being told that either we can't be helped, we don't know what we're talking about or just being treated like idiots. What Is HHT? It is a genetic disorder of the blood vessels. It affects males and females from all racial and ethnic groups. The disorder is also sometimes referred to as Osler-Weber-Rendu (OWR) after several doctors who studied HHT about 100 years ago. In 1896 Dr. Rendu first described HHT as a hereditary disorder involving nosebleeds and characteristic red spots that was distinctly different from hemophilia. Before Dr. Rendu's work, doctors did not understand that individuals with what we now call HHT have abnormalities of their blood vessels, not a clotting problem in the blood itself. Drs. Weber and Osler reported on additional features of HHT in the early 1900s. More than a hundred years later, HHT is still often misdiagnosed in affected individuals and many doctors do not understand all of its manifestations. HHT is a hereditary disorder (passed down through generations) that is characterized by abnormal blood vessels. A person with HHT has a tendency to form blood vessels that lack normal capillaries between an artery and vein. This means that arterial blood under high pressure flows directly into a vein without first having to squeeze through very small capillaries. This place where an artery is connected directly to a vein tends to be a fragile site that can rupture and bleed. We usually call a blood vessel that is abnormal in this way a telangiectasia (tel-AN-jee-eck-TAZE-ee-ya) if it involves small blood vessels. The telangiectasias most commonly occur on the skin of the face and hands and the lining of the nose and mouth. The telangiectasias on the lining of the nose cause recurrent nosebleeds, the most common symptom of HHT. Telangiectasias can also occur in the digestive tract, particularly in the stomach and small bowel. There are a number of different treatments available for bleeding from telangiectasias in the nose and digestive tract. What Causes HHT? HHT is caused by a change (a “mutation”) in one of several HHT-associated genes. Changes in one of two of the genes, endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1) are responsible for most cases of HHT. Changes in another gene, SMAD-related protein 4 (SMAD4), cause a combined syndrome of juvenile polyps of the gastrointestinal tract and HHT. At least two other unidentified genes also appear to cause HHT in a smaller number of individuals. There are hundreds of different mutations in each of the three known genes that can cause HHT. Having a mutation in an HHT-associated gene causes some blood vessels to form improperly leading to symptoms of HHT. An abnormality that involves a larger blood vessel is called an arteriovenous malformation (AVM). Some people with HHT will also have AVMs in one or more organs. AVMs occurring in the lungs and brain and can lead to serious complications. Everyone with HHT should undergo screening for lung and brain AVMs because if these are detected, they can be treated. The HHT Foundation recommends that allpatients and families with HHT be assessed at an HHT Treatment Center for proper screening and treatment. I'm sure if we were to find a famous celebrity that suffered from this potentially fatal vascular disorder, it would be all over the news. Unfortunately, that has yet to happen, so we just sit in the dark and suffer. All we are asking if for someone to stand up for us and help us act to get some awareness and funds to do more research. We need to eat healthy to carry on, however nearly every single "health food" contains something in it that is a natural blood thinner that causes us to bleed that much more. There is no cure and I've yet to find or hear of a treatment that helps without hurting in some way. 1 in 5000 people have this disease, but it is rarely diagnosed so there's not enough emphasis on it for us to get the help that we need. If you will PLEASE look into this for us just so there can be some type of recognition, our gratitude would be unending. Thank you for your time and attention to this matter. Sincerely, All HHT Sufferers