A Quick Overview of Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia is a rare genetic disorder that affects only one person in five thousand. While the ratio shows that the disease is quite rare, it has the ability to affect anybody, regardless of his or her sex, race, or ethnic classification. Today, there are other names for hereditary hemorrhagic telangiectasia. It is usually referred to as the Osler-Weber-Rendu disorder, or simply the OWR. They called the disease OWR after the three doctors who further studied the disease.

Hereditary hemorrhagic telangiectasia, as the name suggests, is a disorder that can be inherited from one’s parents. Dr. Rendu, the first doctor who studied the disease, had associated the disorder with nosebleeds and red spots on the skin. And although the symptoms are similar to hemophilia, his studies had shown that the two have distinct differences.

In essence, patients with hereditary hemorrhagic telangiectasia have problems with their blood vessels. The vessels show definite abnormalities and it is not associated to blot clotting. Specifically, the abnormality is characterized by the blood vessels lacking the capillaries found between arteries and veins. And so the blood’s tendency is to flow directly through them without the usual procedure of squeezing into the smaller capillaries. This may cause rupture in the veins or arteries that can lead to bleeding, especially during the cases of high blood pressure.

The bigger problem that lies here is the position, function, and location of the vein that is affected. Research had shown that the most common veins sustaining the abnormality are ones to the nose and the skin. But several instances have been recorded wherein the gastrointestinal tract, the liver, the lungs, and even the brain are affected. And when the brain is indeed affected, very severe complications would occur.

The symptoms associated with hereditary hemorrhagic telangiectasia depend entirely as to what organ it affected. If it is the nose, the symptom will be nose bleeding. If it happens on the skin, there will be bleeding in the certain areas where the vessel is located. In the stomach, it will be dark stools and sometimes, there would be blood in it. On the lungs, patients will be coughing up blood. If it occurs in the brain, it is going to be a medical emergency. Patients need to be rushed in a hospital for that.

Although this disease is hereditary, the veins affected on the parent are not always the same with their children. If the parent has hereditary hemorrhagic telangiectasia in their skin, it does not follow that their children would have it in the exact same place as well. It is very possible that they may develop it somewhere else, like in the brain. There are also instances that their children’s hereditary hemorrhagic telangiectasia is hidden, which is more dangerous, because doctors may fail to diagnose it until the time it is already worse.

And since this disease is hereditary, the child of a parent with hereditary hemorrhagic telangiectasia has to be tested for it as early as possible. It is usually the doctors who determine the right age they should be screened. But whenever possible, the screening is conducted right after the baby’s birth.

Hereditary hemorrhagic telangiectasia may not be easy to prevent, but it can definitely be treated. The milder cases of this disease, particularly the ones affecting the skin and the nose, can be treated by simple laser therapies. But if hereditary hemorrhagic telangiectasia strikes the liver, the lungs, or the brain, intensive medical procedures are required. Your doctor would usually carry out treatment immediately after diagnosis so as to stop its symptoms from developing. To know what specific treatments are necessary, it is best to consult with a specialist.
Fortunately enough, genetic testing is now available for this disorder. But this test is rather complex it has to be explained fully to the family who will undergo it before it can be performed. It was introduced only in 2003 and so testing centers are still few currently. It is best to ask your doctor about it first whether or not it is going to be beneficial to your family.