تخطي إلى المحتوى الرئيسي

Osler-Weber-Rendu syndrome

مراجعة من قبل Dr Hayley Willacy, FRCGP آخر تحديث بواسطة الدكتور كولين تايدي، MRCGPLast updated 25 May 2016

يتوافق مع الإرشادات التحريرية

تم أرشفة هذه الصفحة.

لم يتم مراجعته مؤخرًا وليس محدثًا. قد لا تعمل الروابط والمراجع الخارجية بعد الآن.

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.

This summary has been automatically generated from the article content to help readers quickly understand the key points.

في هذه المقالة:

Video picks for الأوعية الدموية

تابع القراءة أدناه

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?

العودة إلى المحتويات

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.

تابع القراءة أدناه

How common is Osler-Weber-Rendu syndrome?

العودة إلى المحتويات

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

Symptoms

العودة إلى المحتويات

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 فشل القلب with shortness of breath.

تابع القراءة أدناه

How is Osler-Weber-Rendu syndrome diagnosed?

العودة إلى المحتويات

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 و 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).

العلاج

العودة إلى المحتويات

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 combined oral contraceptive pill (containing oestrogen and progestogen) is often used for women who have Osler-Weber-Rendu syndrome.

المضاعفات

العودة إلى المحتويات

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

ما هي التوقعات (التشخيص)؟

العودة إلى المحتويات

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

Patient picks for الأوعية الدموية

Buerger's disease

صحة القلب والأوعية الدموية

Buerger's disease

Buerger's disease causes inflammation of blood vessels in the legs and arms, particularly in the hands and feet. It leads to narrowing and blockage of the blood vessels so that blood flow to the hands and feet is reduced. This causes pain and other symptoms. It may eventually lead to damage and death of the tissues in the hands and/or feet. The exact cause is not known. It mainly affects smokers but occasionally occurs in non-smokers. The single most important thing that you can do if you are diagnosed with Buerger's disease is to stop smoking. This can help to stop the disease from becoming worse and reduces your chance of needing surgical removal (amputation) of a finger, a toe, or worse.

بقلم الدكتور لورانس نوت

الأسئلة الشائعة

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.

These questions and answers have been generated from the information in this article.

قراءة إضافية ومراجع

تابع القراءة أدناه

About the authorView full bio

Author image

الدكتور كولين تايدي، MRCGP

General Practitioner, Medical Author

MBBS, MRCGP, MRCP (Paediatrics), DCH

Dr Colin Tidy is an NHS Doctor, based in Oxfordshire.

About the reviewerView full bio

Author image

الدكتورة هايلي ويلاسي، زميلة الكلية الملكية للأطباء العامين

General Practitioner, Medical Author

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. 

تاريخ المقال

تمت كتابة المعلومات على هذه الصفحة ومراجعتها من قبل أطباء مؤهلين.

أداة التحقق من أهلية لقاح الإنفلونزا

اسأل، شارك، تواصل.

تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.

symptom checker

هل تشعر بتوعك؟

قم بتقييم أعراضك عبر الإنترنت مجانًا

اشترك في النشرة الإخبارية للمرضى

جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.

يرجى إدخال عنوان بريد إلكتروني صالح

By subscribing you accept our سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.