Osler-Weber-Rendu-Syndrom
Begutachtet von Dr Hayley Willacy, FRCGP Zuletzt aktualisiert von Dr Colin Tidy, MRCGPLast updated 25. Mai 2016
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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.
At a glance
Osler-Weber-Rendu syndrome causes abnormal blood vessels to develop in various parts of the body.
It is an inherited condition that affects about 1 in 6,000 people.
Symptoms depend on where the abnormal blood vessels are located.
Nosebleeds are often the first symptom, starting in teenage years.
Treatments include surgery, laser therapy, and blocking abnormal vessels.
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Was ist das Osler-Weber-Rendu-Syndrom?
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?
Zurück zum InhaltOsler-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.
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How common is Osler-Weber-Rendu syndrome?
Zurück zum InhaltOsler-Weber-Rendu syndrome is uncommon and occurs in about 1 in 6,000 people.
Symptome
Zurück zum InhaltThe 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 Herzinsuffizienz with shortness of breath.
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How is Osler-Weber-Rendu syndrome diagnosed?
Zurück zum InhaltTests to diagnose Osler-Weber-Rendu syndrome include blood tests, scans of your heart (called an Echokardiogramm), using an endoscope to look at both ends of your gut (bowel), CT-Scans und MRT-Scans. Genetische Tests 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).
Behandlung
Zurück zum InhaltSevere 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 kombinierte orale Antibabypille (containing oestrogen and progestogen) is often used for women who have Osler-Weber-Rendu syndrome.
Komplikationen
Zurück zum InhaltThe complications of Osler-Weber-Rendu Syndrome may include severe bleeding (haemorrhage), Herzinsuffizienz and high blood pressure in the lungs (pulmonary hypertension). Severe liver disease (Leberzirrhose) may occur in a small number of those with this condition.
Wie ist die Aussicht (Prognose)?
Zurück zum InhaltThere is usually no effect on lifespan. However, severe internal bleeding or severe liver disease (liver cirrhosis) may cause early death.
Häufig gestellte Fragen
What are arteriovenous malformations (AVMs)?
Arteriovenous malformations, or AVMs, are abnormal connections between arteries and capillaries. In people with Osler-Weber-Rendu syndrome, these abnormal blood vessels can occur in various parts of the body, particularly the lungs, liver, and brain. Abnormal blood vessels visible on the skin are called telangiectasias.
How can Osler-Weber-Rendu syndrome affect my heart?
Abnormal blood vessels in the liver can lead to an increase in blood flow within the liver. This increased blood flow can sometimes cause heart failure, which may result in symptoms like shortness of breath. The condition can also lead to high blood pressure in the lungs, known as pulmonary hypertension.
If I have Osler-Weber-Rendu syndrome, will my children inherit it?
Yes, Osler-Weber-Rendu syndrome is a genetic condition, meaning it is inherited and passed down through families. Genetic testing can be used to identify if other family members also carry the abnormal gene associated with the syndrome. This helps in understanding the risk of passing it on.
What does genetic testing involve for Osler-Weber-Rendu syndrome?
Genetic testing is used to look for specific changes in the genes that are linked to Osler-Weber-Rendu syndrome. It can also help identify if other members of your family have an abnormal gene (mutation) for the condition. This information can be useful for diagnosis and family planning.
Can Osler-Weber-Rendu syndrome affect my digestive system?
Yes, abnormal blood vessels can occur in the lining of the gut (gastrointestinal tract). This can lead to symptoms such as vomiting blood or passing very dark stools (faeces), which are signs of bleeding within the digestive system. In some cases, severe bleeding may require a blood transfusion.
What treatments are available for bleeding caused by this condition?
For severe bleeding, a blood transfusion may be necessary. If there are specific areas of bleeding, surgery, local intense heat treatment (electrocautery), or laser treatment might be used. Additionally, a procedure called embolisation, which involves injecting a substance to block the abnormal blood vessel, can be used to treat arteriovenous malformations (AVMs).
Are there any hormonal treatments for Osler-Weber-Rendu syndrome?
Yes, female hormones, specifically oestrogens, have been shown to be effective. The combined oral contraceptive pill, which contains both oestrogen and progestogen, is often prescribed for women with Osler-Weber-Rendu syndrome.
Is it possible to have Osler-Weber-Rendu syndrome without showing symptoms until adulthood?
Yes, while recurrent nosebleeds are often the first symptom experienced during teenage years, abnormal blood vessels (telangiectasias) in the skin may not become noticeable until a person is 20-30 years old. Symptoms can vary greatly depending on where the abnormal blood vessels are located in the body.
Weiterführende Literatur und Referenzen
- 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; Optimale Behandlung der hereditären hämorrhagischen Teleangiektasie. J Blood Med. 2014 Okt 15;5:191-206. doi: 10.2147/JBM.S45295. eCollection 2014.
- Shovlin CL, Guttmacher AE, Buscarini E, et al; Diagnostische Kriterien für hereditäre hämorrhagische Teleangiektasie (Rendu-Osler-Weber-Syndrom). Am J Med Genet. 6. März 2000;91(1):66-7.
- McDonald J, Wooderchak-Donahue W, VanSant Webb C, et al; Hereditäre hämorrhagische Teleangiektasie: Genetik und molekulare Diagnostik in einem neuen Zeitalter. Front Genet. 2015 Jan 26;6:1. doi: 10.3389/fgene.2015.00001. eCollection 2015.
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About the authorView full bio
Dr Colin Tidy, MRCGP
Allgemeinmediziner, Medizinischer Autor
MBBS, MRCGP, MRCP (Paediatrics), DCH
Dr. Colin Tidy ist ein NHS-Arzt mit Sitz in Oxfordshire.
About the reviewerView full bio
Dr Hayley Willacy, FRCGP
Allgemeinmediziner, Medizinischer Autor
MBChB (1992), DRCOG, DFFP, MRCOG (Part 1) MRCGP (2007), DFSRH (2013), MSc - medical education (2020)
Dr Hayley Willacy was an NHS GP working in northwest England, who retired from clinical practice in 2022 after 30 years.
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25. Mai 2016 | Neueste Version
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