What You Should Know About Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia is a rare genetic disease. However, even though it is rare, you may be unknowingly dealing with the condition in yourself or in your child. Learn more about this unique health issue. Then if you or a loved one shows signs of hereditary hemorrhagic telangiectasia, you can get to your doctor as soon as possible for diagnosis and treatment.
What Is Hereditary Hemorrhagic Telangiectasia?
Hereditary hemorrhagic telangiectasia (HHT) is also known as Osler-Weber-Rendu disease and is a disorder that affects the blood vessels. When a person has this condition, the tiny capillaries in the body are formed incorrectly.
What this means is that the connections between the veins and arteries that circulate blood throughout the body are damaged and can cause problems known as telangiectases or arteriovenous malformations. Which of these occurs depends on the size of the blood vessels that are affected by the condition.
What Are the Signs of HHT?
If a person has HHT, they may not realize it until they are well into adulthood. Part of this is because the signs and symptoms do not always seem obvious. Other times it occurs because when symptoms do appear, people do not know what to make of them.
A person with HHT might have small red spots and lace-like blood vessels on the surface of the skin. These commonly occur on the lips or inside the mouth. However, they can also show up on the hands or even inside the nose. Because of these nasal issues, another common sign of HHT is frequent nosebleeds.
Oftentimes, a person with HHT will first be diagnosed with anemia, specifically iron-deficiency anemia, because HHT causes frequent bleeding that may not readily be detected at first. In addition to the smaller blood vessel problems (telangiectases), there are also AVMs to worry about.
AVMs do not usually show up except when scans are performed such as x-rays, MRIs or using arteriography (a dye-assisted scan of the blood vessels and arteries). These malformations are larger than telangiectases and generally occur in the lungs, brain, or liver.
What Can You Do About HHT?
HHT is a lifelong condition that cannot yet be cured. However, you can and should manage the condition carefully. Working with your doctor or medical team, you will need to monitor your condition and report any abnormal bleeding to your doctor. If you have severe nosebleeds, for example, you can have procedures like ablations performed to help stop the bleeding.
When a person has AVMs, they need to take care to watch out for any signs that the AVM is bleeding out into the body. Sudden trouble breathing in a patient with a lung AVM or a severe headache in a person with a brain AVM is cause for immediate emergency medical attention.
Be careful and vigilant in monitoring how you are feeling and keeping track of any bleeding that you experience, and you will be able to successfully manage and navigate life with HHT. If you have any of the signs and symptoms of this condition, see your family practice doctor right away. The sooner you are diagnosed, the better you will be able to take care of yourself going forward.