Hereditary Hemorrhagic Telangiectasia
Introduction
Source: NHS
In this topic (6)
Hereditary haemorrhagic telangiectasia (HHT) is an inherited genetic disorder that affects the blood vessels. It's sometimes spelt hereditary hemorrhagic telangiectasia and is also known as Osler-Weber-Rendu syndrome .
Typical symptoms are persistent Nosebleed and visible red spots in certain places on the body typically on the fingertip pads, on the lips and tongue, and on mucous membranes such as the lining of the nose and gut (see What are the symptoms? ).
Itaffectsabout 1 in 5,000 people.
Articles for Hereditary Hemorrhagic Telangiectasia
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
Introduction
NHS Choices information on hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome), with links to other useful resources.
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
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 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