Osler-Weber-Rendu syndrome
Granskad av Dr Hayley Willacy, FRCGP Senast uppdaterad av Dr Colin Tidy, MRCGPLast updated 25 May 2016
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
Denna sida har arkiverats.
Det har inte granskats nyligen och är inte uppdaterat. Externa länkar och referenser kanske inte längre fungerar.
Osler-Weber-Rendu syndrome is a disorder of the blood vessels that can cause excessive bleeding. Osler-Weber-Rendu syndrome is also called hereditary haemorrhagic telangiectasia. The abnormal blood vessels can cause bleeding both into the skin and inside your body.
I den här artikeln:
Video picks for Blood vessels
Fortsätt läsa nedan
What is Osler-Weber-Rendu syndrome?
People with Osler-Weber-Rendu syndrome can develop abnormal blood vessels in several areas of the body. These vessels are called arteriovenous malformations. The abnormal blood vessels in the skin are called telangiectasias. There are also abnormal connections between arteries and capillaries (called arteriovenous malformations, or AVMs). These AVMs particularly occur in the lungs, liver and brain.
What causes Osler-Weber-Rendu syndrome?
Tillbaka till innehållOsler-Weber-Rendu syndrome is inherited, which means it is passed down through families. Scientists have identified four genes involved in this condition. All these genes appear to be important for blood vessels to develop properly.
Fortsätt läsa nedan
How common is Osler-Weber-Rendu syndrome?
Tillbaka till innehållOsler-Weber-Rendu syndrome is uncommon and occurs in about 1 in 6,000 people.
Symptoms
Tillbaka till innehållThe symptoms will depend on the location of the abnormal blood vessels. The first symptom is often recurrent nosebleeds as a teenager. Abnormal blood vessels (telangiectasias) in the skin are often not seen until 20-30 years of age. Abnormal blood vessels also often occur on the lips, tongue and the lining of the nose. They may also occur on the white surface of the eye (conjunctiva), lining of the gut (gastrointestinal tract), lungs, brain and liver.
Therefore, the symptoms may include:
Abnormal blood vessels on the skin, lips and white surface of your eyes.
Bringing up (vomiting) blood or passing very dark stools (faeces) - bleeding from your gut.
Headaches, fits (seizures) and bleeding into the brain (stroke).
Coughing up blood - bleeding into the lungs (which is called haemoptysis).
Tiredness, weakness and feeling faint (symptoms of anaemia caused by bleeding inside your body).
Abnormal blood vessels in the liver may cause increased blood flow in the liver. This may cause heart failure with shortness of breath.
Fortsätt läsa nedan
How is Osler-Weber-Rendu syndrome diagnosed?
Tillbaka till innehållTests to diagnose Osler-Weber-Rendu syndrome include blood tests, scans of your heart (called an echocardiogram), using an endoscope to look at both ends of your gut (bowel), CT scans och MRI scans. Genetic testing is used to look for changes in the genes associated with Osler-Weber-Rendu syndrome. Genetic testing can also be used to see if anyone else in your family also has an abnormal gene (mutation).
Treatment
Tillbaka till innehållSevere bleeding may need a blood transfusion. Surgery, local intense heat treatment (electrocautery) or laser treatment may also be needed for areas of bleeding.
Arteriovenous malformations (AVMs) can be treated by injecting a substance into the blood vessel (embolisation) to block the abnormal blood vessel.
Female hormones (oestrogens) have been shown to be effective. The combined oral contraceptive pill (containing oestrogen and progestogen) is often used for women who have Osler-Weber-Rendu syndrome.
Complications
Tillbaka till innehållThe complications of Osler-Weber-Rendu Syndrome may include severe bleeding (haemorrhage), heart failure and high blood pressure in the lungs (pulmonary hypertension). Severe liver disease (liver cirrhosis) may occur in a small number of those with this condition.
Vad är utsikterna (prognosen)?
Tillbaka till innehållThere is usually no effect on lifespan. However, severe internal bleeding or severe liver disease (liver cirrhosis) may cause early death.
Vidare läsning och referenser
- Begbie ME, Wallace GM, Shovlin CL; Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J. 2003 Jan;79(927):18-24.
- Garg N, Khunger M, Gupta A, et al; Optimal management of hereditary hemorrhagic telangiectasia. J Blood Med. 2014 Oct 15;5:191-206. doi: 10.2147/JBM.S45295. eCollection 2014.
- Shovlin CL, Guttmacher AE, Buscarini E, et al; Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000 Mar 6;91(1):66-7.
- McDonald J, Wooderchak-Donahue W, VanSant Webb C, et al; Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 2015 Jan 26;6:1. doi: 10.3389/fgene.2015.00001. eCollection 2015.
Fortsätt läsa nedan
Artikelhistorik
Informationen på denna sida är skriven och granskad av kvalificerade kliniker.
25 May 2016 | Senaste versionen
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Känner du dig sjuk?
Bedöm dina symtom online gratis
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
By subscribing you accept our Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.