More Than a Nosebleed: HHT

Lots of people suffer from nosebleeds. Some children have them frequently and then outgrow them. Others start getting them as adults and they become worse as they age. Nosebleeds are no fun, and severe “epistaxis” can even be life threatening when they cause a large volume of blood loss.

Nosebleeds are also the symptom of a little known disease that can have other, more dramatic effects. HHT (Hereditary Hemorrhagic Telangiectasias), also known as Osler-Weber Rendu Syndrome, can affect any part of the body and can be fatal. These genetic bleeding spots can appear and disappear again, making them difficult to notice for the untrained eye. The good news is that it can be treated and the effects minimized if diagnosed correctly. Unfortunately, over 90% of those with the genetic vascular disease are currently undiagnosed.

HHT is a blood disorder which affects 1 in 5,000 people, males and females of all ethnic backgrounds. Rather than a clotting problem with the blood itself, it is an abnormality of the blood vessels. According to the HHT Foundation, “The location of telangiectases and /or AVMs in the body determines what problem(s) someone with HHT might have. In most locations, and at any size, a telangiectasia or AVM has a greater tendency to rupture and bleed than a normal blood vessel. In the nose, skin, GI tract (stomach and intestines), and brain the primary problem they can cause is bleeding. AVMs in the lungs or liver are less likely to rupture and bleed, but can cause other problems that are less obvious. Family members can vary greatly in what symptoms they manifest. Some individuals may have many nosebleeds but not be affected anywhere else in the body, and others may have lung or brain malformations but manifest no nosebleeds at all.

I have been diagnosed with HHT for nearly 30 years and have had chronic nosebleeds since I was a young child. It wasn’t until 9 years ago, however, that a 3 cm malformation was discovered in my upper right lung. It had caused me problems with low oxygen levels all of my life, but I was unaware that my breathing was not normal until I felt what “normal” breathing was like after the corrective surgery. I now have 12 tiny metal coils in my lung that have closed off the malformation.

This PAVM could have burst during either of my childbirth experiences and killed me or caused a stroke due to lack of blood being filtered on its way to my brain because of missing capillaries.

Both of my daughters also have HHT. Both have Telangiectasias (bleeding spots) externally, and one also has lung AVM’s. I regret the fact that I have passed this disease on to both of my children, but at least they have been diagnosed and can be observed and treated. It is quite unlikely that they will suffer something fatal as a result.

95% of people with HHT manifest nosebleeds by the time they reach 40. Frequency of bleeding and amount of blood lost can vary greatly. They can have a couple of bleeds a year, or several a day. It is not unusual for carriers of the disease to begin developing small reddish or purplish spots on the hands, face, and mouth by middle age.

Other problems can include gastrointestinal bleeding, and brain or liver AVMs. It is important to note that the presence or severity of nosebleeds is NOT a good predictor of other manifestations of HHT. Unfortunately, physicians commonly misdiagnose individuals with HHT. People may die of stroke or brain AVMs and never know that they or their families carry HHT, leaving future generations at higher risk of HHT’s less visible manifestations.

There are 3 different genes responsible for the development of HHT but a family will all share the same genetic marker. In the past decade great strides have been made in diagnosing and treating HHT. If individuals in your family suffer from nosebleeds and/or have red or purple spots on their skin, it is advisable to seek advice from the HHT Foundation and locate your nearest HHT clinic.

Research and treatment modalities are growing exponentially. Getting a diagnosis, support, and treatment for this little known genetic vascular disease is important…It could save your children’s or grandchildrens lives!