תסמונת אוסלר-וובר-רנדו

נבדק על ידי ד"ר היילי וילאסי, FRCGP עודכן לאחרונה על ידי Dr Colin Tidy, MRCGPעודכן לאחרונה 25 May 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.

במבט חטוף

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.

תקציר זה נוצר באופן אוטומטי מתוכן המאמר כדי לעזור לקוראים להבין במהירות את הנקודות המרכזיות.

מהו תסמונת אוסלר-וובר-רנדו?

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.

תסמינים

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 אי ספיקת לב 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 אקו לב), using an endoscope to look at both ends of your gut (bowel), סריקות CT ו סריקות MRI. בדיקות גנטיות 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).

טיפול

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.

סיבוכים

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

מה התחזית (פרוגנוזה)?

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

בחירות המטופלים עבור הפרעות בכלי דם

בריאות הלב וכלי הדם

דלקת עורקים של תאי ענק

Giant cell arteritis is also known as temporal arteritis. The typical symptoms of giant cell arteritis (temporal arteritis) are headache, tenderness over one or both sides of the forehead, and feeling generally unwell. Other symptoms that may occur include pain in your jaw muscles when chewing, and visual loss. Seek medical attention immediately if you suspect that you have giant cell arteritis. People with giant cell arteritis need urgent treatment with steroids. Prompt treatment aims to prevent serious complications such as severe sight impairment which can occur soon after the disease starts.

מאת ד"ר פיליפה וינסנט, MRCGP

בריאות הלב וכלי הדם

פקקת ורידים עמוקים

A deep vein thrombosis (DVT) is a blood clot in a vein. Blood clots in veins most often occur in the legs but can occur elsewhere in the body, including the arms. This leaflet is about blood clots in leg veins. The most common cause of a blood clot developing in a vein is immobility. A complication can occur in some cases where part of the blood clot breaks off and travels to the lung (pulmonary embolus). This is usually prevented if you are given anticoagulation treatment.

מאת ד"ר טוני הייזל, FRCGP

שאלות נפוצות

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.

השאלות והתשובות הללו נוצרו מהמידע במאמר זה.

קריאה נוספת והפניות

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; ניהול אופטימלי של טלנגיאקטזיה המורגית תורשתית. J Blood Med. 2014 Oct 15;5:191-206. doi: 10.2147/JBM.S45295. eCollection 2014.
Shovlin CL, Guttmacher AE, Buscarini E, et al; קריטריונים לאבחון טלנגיאקטזיה דימומית תורשתית (תסמונת רנדו-אוסלר-וובר). Am J Med Genet. 2000 מרץ 6;91(1):66-7.
McDonald J, Wooderchak-Donahue W, VanSant Webb C, et al; טלנגיאקטזיה המורגית תורשתית: גנטיקה ואבחון מולקולרי בעידן חדש. Front Genet. 26 בינואר 2015;6:1. doi: 10.3389/fgene.2015.00001. eCollection 2015.

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25 May 2016 | הגרסה האחרונה
עודכן לאחרונה על ידי
Dr Colin Tidy, MRCGP
נבדק על ידי
Dr Hayley Willacy, FRCGP

אנשי מקצוע רפואיים

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