Osler-Weber-Rendu syndrom

Granskad av Dr Hayley Willacy, FRCGP Senast uppdaterad av Dr Colin Tidy, MRCGPSenast uppdaterad 25 May 2016

Uppfyller patientens redaktionella riktlinjer

Ladda ner
Ladda ner
Artikel-PDF har laddats ner
Dela
Dela
Artikel länk kopierad till urklipp
Language
Language
Diskussion
Ask Patient
Ljudversion
Lägg till i föredragna källor på Google

Innehållsmeddelande

Den här sidan har inte granskats på senare tid, så viss information eller vissa externa länkar kan ha ändrats.

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.

Överblick

Osler-Weber-Rendu syndrome is a rare inherited condition.
It causes abnormal blood vessels in various parts of the body.
Common symptoms include recurrent nosebleeds and red spots on the skin.
Complications can include severe bleeding, heart failure, or lung problems.
Treatments include surgery, laser treatment, or medicines.

Denna sammanfattning har automatiskt genererats från artikelns innehåll för att hjälpa läsarna att snabbt förstå huvudpunkterna.

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?

Osler-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.

How common is Osler-Weber-Rendu syndrome?

Osler-Weber-Rendu syndrome is uncommon and occurs in about 1 in 6,000 people.

Symptom

The 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 hjärtsvikt with shortness of breath.

How is Osler-Weber-Rendu syndrome diagnosed?

Tests 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-skanningar. Genetisk testning 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).

Behandling

Severe 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 kombinerat p-piller (containing oestrogen and progestogen) is often used for women who have Osler-Weber-Rendu syndrome.

Komplikationer

The complications of Osler-Weber-Rendu Syndrome may include severe bleeding (haemorrhage), hjärtsvikt and high blood pressure in the lungs (pulmonary hypertension). Severe liver disease (levercirros) may occur in a small number of those with this condition.

Vad är utsikterna (prognosen)?

There is usually no effect on lifespan. However, severe internal bleeding or severe liver disease (liver cirrhosis) may cause early death.

Patientval för Blood vessel disorders

Hjärthälsa och blodkärl

Lungemboli

A pulmonary embolism (embolus) is a serious, potentially life-threatening condition. It is due to a blockage in a blood vessel in the lungs. A pulmonary embolism (PE) can cause symptoms such as chest pain or breathlessness. It may have no symptoms and be hard to detect. A massive PE can cause collapse and death. PE usually happens due to an underlying blood clot in the leg - deep vein thrombosis (DVT). Prompt treatment is important and can be life-saving. Pregnancy, various medical conditions and medicines, immobility and major surgery all increase the risk of a PE. Anticoagulation, initially with heparin and then warfarin, or other oral blood thinning tablets, is the usual treatment for PE.

av Dr Rachel Hudson, MRCGP

Hjärthälsa och blodkärl

Koarktation av aorta

Coarctation of the aorta is a type of congenital heart disease where there is a narrowing in part of the aorta, the main artery that leaves the left side of the heart.

av Dr Toni Hazell, FRCGP

Vanliga frågor

Can Osler-Weber-Rendu syndrome affect children?

The article mentions that nosebleeds, often the first symptom, can appear during teenage years. It also states that abnormal blood vessels in the skin may not be visible until a person is 20-30 years old.

Are there any specific lifestyle changes I should make if I have Osler-Weber-Rendu syndrome?

The article does not suggest any specific lifestyle changes for managing Osler-Weber-Rendu syndrome. It focuses on the inheritance, symptoms, diagnosis, and medical treatments available for the condition.

How often should I be monitored if I have Osler-Weber-Rendu syndrome?

The article does not specify a frequency for monitoring individuals with Osler-Weber-Rendu syndrome. It describes various diagnostic tests used to identify the condition and its manifestations.

Is it possible for Osler-Weber-Rendu syndrome to skip a generation?

The article highlights that Osler-Weber-Rendu syndrome is inherited and passed down through families. It also mentions that genetic testing can determine if other family members carry an abnormal gene, implying direct inheritance rather than skipping generations.

If I have Osler-Weber-Rendu syndrome, are my children guaranteed to inherit it?

The article notes that Osler-Weber-Rendu syndrome is inherited, meaning it is passed down through families, but it does not specify the exact pattern of inheritance or the probability of a child inheriting it. It confirms the involvement of four genes important for blood vessel development.

Dessa frågor och svar har genererats från informationen i denna artikel.

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.

Artikelhistorik

Informationen på denna sida är skriven och granskad av kvalificerade kliniker.

Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.

25 May 2016 | Senaste versionen
Senast uppdaterad av
Dr Colin Tidy, MRCGP
Granskad av
Dr Hayley Willacy, FRCGP

Medicinska yrkesverksamma

Looking for more in-depth clinical detail? Our Professional Reference articles are written for doctors, nurses and other healthcare professionals. They include comprehensive clinical guidance, diagnostic information and UK/European evidence summaries. If you need the clinical version, you can read the Professional Reference article on this topic.

Delta i konversationen

Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.

Relaterade diskussioner

Visa fler diskussioner

Ansvarsfriskrivning: The views expressed in the community do not represent medical advice. For any health concerns, consult your GP or healthcare provider.