I need information on Osler-Weber-Rendu disease. I inherited it and have horribly heavy nosebleeds with no warning eight to 12 times daily. Ten years ago I had a new lining put in my nose that helped for about five years, but it's getting bad again, and now I've got these terrible headaches that wake me up at night. I try not to take aspirin. Please let me know how I can find out more about it and if there are any new treatments for it.

C.P.

Osler-Weber-Rendu disease is an inherited malformation of vessels of all sizes, from the smallest capillaries to the major arteries. The capillaries form tiny clusters known as telangiectasias; when these occur in the nasal septum, they are very fragile and bleed readily. Nosebleeds are, in fact, the most common sign of Osler-Weber-Rendu disease. It is not unusual for individuals with this disease to require transfusions, simply because of the frequent nosebleeds.
Unfortunately, the larger vessels may also be afflicted with an abnormality known as arteriovenous malformation (AVM). AVMs are abnormal connections between the high-pressure arterial system and the low-pressure venous system. Veins do not have the appropriate structure to harness high-pressure blood flow, and over time they dilate and may rupture.

Arteriovenous malformations may cause problems not only through rupture and hemorrhage, but also by enlargement. (They place pressure on adjacent structures, causing pain, impaired blood flow and limited mobility.) Although nosebleeds are the most common and annoying feature of this disease, arteriovenous malformations are more life-threatening, especially if they occur in the brain, spinal cord, lungs or gastrointestinal tract.

Thus, your headaches are VERY worrisome. In a worst-case scenario, you could be developing an aneurysm in or near your brain. If unchecked, the aneurysm could rupture, leading to severe disability or even death. Needless to say, you need to bring this to your doctor's attention at once. At the very least, an MRI scan of your brain would be prudent, and more invasive testing may also be necessary.

Medications that interfere with coagulation (the ability of blood to clot) must be avoided at all costs. Aspirin and many other anti-inflammatory drugs such as ibuprofen (Advil) are strictly off-limits for this reason. You need to ask your doctor for pain medication that will not interfere with coagulation!

Osler-Weber-Rendu disease is also called hereditary hemorrhagic telangiectasia. It is inherited in a dominant fashion, which means that there is a 50 percent chance that one of your brothers or sisters might also have the disease and a 50 percent chance that you could pass this disease to one of your children. Variability is the rule: A parent with this illness may have severe health problems, while an affected child might only suffer from an occasional nosebleed. Unfortunately, at the present time we do not have genetic tests that would enable us to diagnose this disease prenatally.

With regard to your frequent nosebleeds, you have several options. Conservative measures involve use of moisturizers within the nose, use of a humidifier in your bedroom, and avoidance of digital trauma (nose-picking). Iron and folate supplementation will help prevent anemia. There is also a hormone, erythropoietin (Epogen), that encourages the production of red blood cells; this drug might be useful in severe cases. Septodermoplasty, the operation that you had, is a procedure in which much of the septal mucosa is removed and replaced with a skin graft. This procedure may be repeated, if necessary. Laser photocoagulation involves the use of a laser to destroy individual telangiectasias. Telangiectasias continue to form throughout life, so laser treatments must usually be repeated periodically.

For more information, you should visit the website for the Hereditary Hemorrhagic Telangiectasia Foundation International.