Rendu-Osler-Weber syndrome

Rendu-Osler-Weber Syndrome, also known as Hereditary Hemorrhagic Telangiectasia (HHT), is a genetic disorder that affects the blood vessels and leads to abnormal blood vessel formation. This condition is characterized by the presence of telangiectasias (small vascular malformations) on the skin and mucous membranes and arteriovenous malformations (AVMs) in various organs. HHT is inherited in an autosomal dominant manner, meaning that a mutation in just one of the two copies of the gene a person has is sufficient to cause the disorder.

Symptoms and Signs

The symptoms of Rendu-Osler-Weber Syndrome can vary widely among individuals, but commonly include:

• Epistaxis: Frequent and sometimes severe nosebleeds are the most common symptom.
• Telangiectasia: Small, red or purple spots on the skin, particularly on the lips, nose, fingers, and ears.
• Anemia: Due to frequent bleeding.
• Arteriovenous Malformations (AVMs): Abnormal connections between arteries and veins that can lead to complications if they occur in the brain, lungs, liver, or other organs.

Causes

Rendu-Osler-Weber Syndrome is caused by mutations in one of several genes, including ENG, ACVRL1, and SMAD4. These genes are involved in the development and maintenance of blood vessels. The mutations lead to the abnormal development of blood vessels, resulting in the symptoms of the disease.

Diagnosis

Diagnosis of HHT is based on a combination of clinical criteria known as the Curaçao Criteria, which include:

• Spontaneous and recurrent epistaxis.
• Multiple telangiectasias at characteristic sites.
• Visceral lesions such as gastrointestinal telangiectasia, pulmonary AVMs, hepatic AVMs, or cerebral AVMs.
• A family history of the disease.

Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.

Treatment

There is no cure for Rendu-Osler-Weber Syndrome, but treatment focuses on managing symptoms and preventing complications. Treatment options may include:

• Iron supplements and blood transfusions for anemia.
• Laser therapy or other surgical procedures to remove or reduce telangiectasias and AVMs.
• Embolization of AVMs to prevent bleeding and other complications.

Prognosis

The prognosis for individuals with Rendu-Osler-Weber Syndrome varies depending on the location and severity of AVMs. With appropriate management, most individuals can lead normal lives, although they may require ongoing treatment for bleeding and anemia.

Epidemiology

Rendu-Osler-Weber Syndrome is a rare disorder, affecting approximately 1 in 5,000 to 1 in 8,000 people worldwide. It affects males and females equally and can occur in all ethnic groups.

See Also

• Genetic Disorders
• Vascular Diseases
• Epistaxis
• Anemia

Rendu-Osler-Weber syndrome Resources
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