Osler-Weber-Rendu syndrome
What are the symptoms?
Symptoms usually start in childhood or in the teenage years.
Nosebleeds
Often, the first sign is developing Nosebleed . They can start at any age, often in childhood. Nosebleeds may be frequent and persistent, but can improve with age.
They happen becauseof the abnormal blood vessels in the lining of the nose.
The loss of blood can lead to iron-deficiency anaemia , if the iron is not replaced through the diet and with iron supplements.
Red or purple spots under the skin (telangiectasia)
From about 20-30 years old (sometimes earlier), abnormal blood vessels telangiectasia may start to appear just underneath the skin, which show as red or purple spots.
Telangiectasia typically form on the fingertip pads, the lips, and the lining of the nose or the gut. Sometimes, they can form on the ears and face. They tend to increase in number with age.
They're usually just a cosmetic problem, although they may sometimes bleed.
Abnormal blood vessels (AVMs) inside the body
Arteriovenous malformations (AVMs) can form inside the body organs and tissues.
Many people with AVMs won't experience any symptoms, and are not even aware they have them. They can cause preventable complications, but most people live well with their AVMs.
Decisions to treat AVMs are based on the safety of the treatment versus the risks of leaving the AVM untreated. Some AVMs are worth treating, and some are better left alone.
AVMs in the lungs (pulmonary AVMs) often lead to low blood oxygen levels, and can allow blood clots to pass through to the brain, which could result in a stroke. They can occasionally bleed, but this is not very common outside of pregnancy. There are safe treatments available and these are usually recommended when pulmonary AVMs are found.
AVMs in the brain usually cause no symptoms, although they can irritate the surrounding brain tissue and cause seizures or headaches. They can also bleed, leading to a stroke, but whether they should be treated if they have not bled remains controversial.
AVMs in other parts of the body usually cause no symptoms.
Medically Reviewed by a doctor on 21 Dec 2018
Introduction
NHS Choices information on hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome), with links to other useful resources.
What happens in HHT?
In HHT, some of the blood vessels do not develop properly. Normally, the arteries branch off into smaller and smaller blood vessels until they reach a network of capillaries (tiny blood vessels) that
What causes HHT?
Someone withHHT will have a faulty gene (genetic mutation) and, usually, this will have been inherited from one of their parents. Thisgene normally provides instructions for making certain proteins f
What are the symptoms?
Symptoms usually start in childhood or in the teenage years. Nosebleeds Often, the first sign is developing Nosebleed . They can start at any age, often in childhood. Nosebleeds may be frequent and
How isHHT treated?
There's no cure for HHT, but there are effective treatments and life expectancy is usually very good. Some patients can be managed by their GP, and some will need to be under the care of a specialist
Information about you
If you have HHT, your clinical team may pass information about you on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for better ways t
Subscribe
Ask the doctor
Rate this article
Find products