Symptoms of hereditary hemorrhagic telangiectasia vary depending on the severity of the condition and the location of the affected blood vessels. Red lines or patterns on the skin (telangiectasia) and nosebleeds are the most common symptoms. The bleeding associated with the condition usually becomes more severe as the patient ages.
When the blood vessels of the brain are affected, the patient may experience a stroke. If you notice one or more of these signs in another person or in yourself, do not wait to seek help. Call 9-1-1 immediately.
The signs of a stroke are:
- Sudden numbness or weakness of the face, arm or leg, especially on one side of the body
- Sudden confusion
- Sudden trouble speaking
- Sudden trouble seeing in one or both eyes
- Sudden trouble walking
- Sudden dizziness, loss of balance or coordination
- Sudden, severe headache with no known cause
If the digestive tract is affected, the disease is usually not detected until the patient is in their 40s. Symptoms associated with the condition in the digestive tract often go unnoticed, but in rare cases, patients may experience blood in the stool or vomit.
Due to repeated blood loss, patients with the condition also tend to have a shortage of red blood cells (anemia), which can cause fatigue, weakness and pale skin.
Causes and Risk Factors
Hereditary hemorrhagic telangiectasia is a type of arteriovenous malformation (AVM) caused by a change in the genes known as ACVRL1, ENG and SMAD4. The condition is inherited, and the patient needs to have only one copy of the abnormal gene from one parent in order to develop it.
The condition is underdiagnosed, because some individuals have mild or no symptoms. Hereditary hemorrhagic telangiectasia is diagnosed in 1 out of every 5,000 people. The condition affects men and women equally and can be diagnosed at any age.