Hereditary haemorrhagic telangiectasia (HHT)
Overview
Hereditary haemorrhagic telangiectasia (HHT) is an inherited genetic disorder that affects the blood vessels. It's also known as Osler-Weber-Rendu syndrome.
Symptoms
The typical symptoms of HHT include: regular nosebleedsvisible red spots in certain places on the body Symptoms usually start in childhood or in the teenage years, but can start at any age. See a GP if you have these symptoms so they can investigate the cause.
Causes
People with HHT have a faulty gene, which is usually inherited from one of their parents. This gene normally provides instructions for making certain proteins found in the lining of the blood vessels. In HHT, the gene cannot produce this protein, or the protein it produces is abnormal. You only need to have 1 copy of the faulty gene to develop HHT.
Treatment
There's no cure for HHT, but there are effective treatments. Some people can be treated by a GP and others need to be under the care of a specialist. There are increased risks during pregnancy for women with HHT, such as a slight increased risk of a major bleed or a stroke. Tell a midwife or GP if you have HHT in your family and you become pregnant. People with severe nosebleeds may need emergency nasal packing, where the nose is packed with ribbon gauze or a special nasal sponge. Read aboutnosebleeds. Some people may need to see an ear, nose and throat specialist for treatment. Laser therapy may help. More severe cases may be treated with skin grafting or other surgery. Telangiectasia on the skin or in the lining of the nose can sometimes be improved with vascular laser or intense pulsed light (IPL) treatment: for the skin, you'll usually need a referral to a dermatologist – this may be expensive if treatment is not available on the NHS as 2 to 4 treatments a year may be neededfor the nose, you'll need a referral to an ear, nose and throat (ENT) specialist – these treatments are usually available on the NHS Laser and IPL machines produce narrow beams of light aimed at the visible blood vessels in the skin. The heat from the lasers makes the veins shrink so they're no longer visible. This should leave minimal scarring or damage to the surrounding area. Laser treatment can be uncomfortable, but most people do not need a local anaesthetic.