About Hereditary Hemorrhagic Telangiectasia (HHT)
HHT - Hereditary Hemorrhagic Telangiectasia (also known as Osler-Weber-Rendu) is a genetic disorder of the blood vessels (a vascular dysplasia) characterized by telangiectases and arteriovenous malformation (AVM). These blood vessel abnormalities occur primarily in the nose, skin of the face, mouth and hands, telangiectasia - lips & tongueintestinal tract, lungs, liver and brain. HHT affects males and females in equal numbers and almost always affects multiple generations of a family.
The most common "complaint" of HHT patients is NOSEBLEEDING. We treat nosebleeds with a variety of surgical and non-surgical methods. The method used depends on a combination of nosebleed severity, number and appearance of telangiectasia in the nose, past treatments and patient preference. Surgical methods include laser therapy, septal-dermoplasty and Young's procedure. Our ENT physician has treated hundreds of HHT patients over many years.
Genetic testing is available for HHT and is complex. The diagnosis of HHT should first be confirmed in at least one member of a family based on symptoms and family history. A family member who clearly has HHT should be tested first to see if the genetic mutation causing HHT in the family can be detected. Depending on the genetic test result of this first tested family member, it can be determined whether brain AVM testing blood samples of additional family members will be helpful. Determining the order in which family members should be tested, coordinating the blood draws and interpreting of the genetic test results for HHT is a complicated, multi-step, family based process. The University of Utah HHT Center offers comprehensive genetic counseling and testing for HHT families. Researchers at our Center are actively working to better understand the multiple genes which give rise to HHT.
Our recommended medical screening protocol is aimed at the detection of internal arteriovenous malformations (AVMs) before they cause a major medical complication. We recommend a couple specific preventive screening tests for all those with HHT. The reason is that AVMs in an internal organ of an individual with HHT are often silent until an event such as a hemorrhage (brain AVM), embolic stroke or brain abscess (lung AVM) occurs. We have found NO correlation between the severity of the observable symptoms of HHT (nosebleeds and telangiectasia) and the likelihood that the individual will have an AVM in the brain or lungs. Although most physicians and patients are most familiar with the nosebleeds of HHT, many other complications can arise due to abnormal blood vessels in internal organs.
Most importantly, we screen for AVMs of the lung and brain because they can be successfully treated if detected prior to a serious medical complication. Often they can be treated using non-surgical, catheter techniques (embolization) which allow a patient to have the malformation treated on an out-patient basis. When an individual with HHT comes to our multidisciplinary clinic for HHT, we test for medically significant AVMs of the lung, liver and brain.
In contrast, we treat the nosebleeds, and telangiectases that can occur in the stomach, intestines or liver, only when symptoms indicate that treatment is needed. In the case of nosebleeds, this is would be because of anemia or because the nosebleeds are significantly interfering with life's activities. In the case of intestinal bleeding, treatment is recommended if anemia results. In the case of liver AVMs/telangiectases, treatment is rarely needed unless the heart is adversely affected by the resulting extra blood flow.
Most patients can have the consultation(s) and tests, recommended in their specific case, done during a one day visit to our Center. Patients who need multiple treatments and consultations may have their appointments scheduled over several days. We offer expert, specialized treatment for the many and varied manifestations of HHT.