HHT Diagnosis Saves Lianne's Life

15-year-old Lianne arrived at Schneider Children's ER presenting fatigue and vomiting. An emergency CT scan showed that she was suffering from a huge brain hemorrhage due to complications from HHT (hereditary hemorrhagic telangiectasia) disease. The youngster was transferred immediately to the operating room where life-saving surgery ensued over many hours.

Doctors noted that luckily, Avital, Lianne's mother, had insisted that her daughter be brought to hospital. Due to her alertness and the speedy attention of the medical teams, Lianne's life was saved.

Avital was diagnosed over 10 years ago with HHT. Although there is a 50% chance of passing this hereditary disease on to one's offspring, Lianne did not undergo an evaluation, and was therefore never diagnosed nor treated for the disease. Had she have been diagnosed and treated, the brain hemorrhage could have been prevented.

HHT, also known as Osler-Weber-Rendu Syndrome, is a genetic disorder characteristically manifested by chronic and acute nosebleeds but it can also lead to strokes, bleeding in the air passages and digestive tract, and pulmonary dysfunction in both children and adults. Incidence is 1:8000, some of whom are totally unaware that they are suffering from the illness. With this, it should be noted that most of the cases of nosebleeds are unconnected to the disease. Suspicion is raised when the bleeding is severe and occurs in several family generations.

HHT is also characterized by distended blood vessels connecting arteries and veins of various organs in the body such as the lungs, brain, colon and so on. Because the symptoms can appear in different areas and organs of the body, and due to low awareness about the disease and its symptoms, HHT is not always diagnosed. Despite the fact that this is a congenital genetic disorder, symptoms sometimes do not appear until adolescence or adulthood.

Dr. Meir Mei-Zahav, Director of the National Center for HHT at Schneider Children's, says that "undiagnosed and untreated patients are a ticking time bomb. It is highly recommended that children and adults who are at risk be examined, treated and followed up. To our great satisfaction, we were able to save Lianne's life, but undoubtedly, this incident could have been prevented."

Avital added that "it was very important for us to tell our personal story in order to raise awareness about HHT. Early diagnosis and treatment can prevent life-threatening situations. I am grateful to the doctors at Schneider Children's for their excellent care of my daughter."

Schneider Children's has the only dedicated HHT clinic in the country and recognized by the Ministry of Health as a national referral center. One of the aims for introducing and offering services is to increase awareness of the disease among the public in order to prevent resultant severe complications. Because nosebleeds are common also in a healthy population, many HHT sufferers remain undiagnosed despite persistent nosebleeds. In some, the disease is only discovered after a stroke or other life-threatening event. Even when an adult is known to have HHT, not always does the family undergo examination. Therefore, if there is more than one member of the family that suffers from heavy nosebleeds, or if a family member suffered a stroke at a young age or has lung bleeds unconnected with another known disease, consultation is absolutely indicated.