Summary about Disease
Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia (HHT), is a genetic disorder that affects blood vessels. It causes them to develop abnormally, making them prone to bleeding. This leads to various problems, most commonly nosebleeds, but also affecting the skin, mucous membranes, and internal organs like the lungs, liver, and brain.
Symptoms
Frequent Nosebleeds: This is the most common symptom, often starting in childhood.
Telangiectasias: These are small, widened blood vessels (often described as spider veins) on the skin, lips, tongue, inside the nose, and fingers.
Gastrointestinal Bleeding: Can lead to anemia (low red blood cell count).
Shortness of breath: This can be due to pulmonary arteriovenous malformations (AVMs) in the lungs.
Seizures or Stroke: Can occur if AVMs are present in the brain.
Liver problems: Can occur due to AVMs in the liver
Causes
HHT is caused by genetic mutations in genes that control blood vessel development. These genes include ENG, *ACVRL1* (also known as *ALK1*), *SMAD4*, and *GDF2*. It is an autosomal dominant disorder, meaning only one copy of the mutated gene is needed to cause the condition. In rare cases, no known genetic mutation is identified.
Medicine Used
4. Medicine used The following medications can be used to manage symptoms associated with HHT.
Iron supplements: To treat anemia caused by blood loss.
Topical creams: For telangiectasias on the skin.
Anti-angiogenic drugs (e.g., bevacizumab, thalidomide): To reduce blood vessel growth and bleeding.
Hormonal therapies (e.g., estrogen): For reducing the severity of nosebleeds (sometimes used, but with potential side effects).
Tranexamic acid: To help stop bleeding
Other medications: Depending on the specific complications (e.g., antibiotics for infections, medications for liver disease).
Is Communicable
No, Osler-Weber-Rendu syndrome is not communicable. It is a genetic disorder, meaning it is inherited and cannot be spread from person to person.
Precautions
Avoid blood thinners (NSAIDs, aspirin, warfarin) if possible: These can increase the risk of bleeding. Consult your doctor before taking any new medications.
Humidify your home: To prevent nasal passages from drying out and bleeding.
Use saline nasal sprays: To keep nasal passages moist.
Avoid strenuous activities that could lead to injury.
Regular screening for AVMs in the lungs and brain: To detect and treat them before they cause serious problems.
Inform healthcare providers about your HHT diagnosis: This is crucial before any medical or surgical procedures.
Genetic counseling: For family planning.
How long does an outbreak last?
HHT is a chronic condition. There is no "outbreak" in the traditional sense of an infectious disease. Symptoms, such as nosebleeds, can vary in frequency and severity over time, but the underlying condition is always present.
How is it diagnosed?
Diagnosis is typically based on the Curaçao criteria:
Nosebleeds: Spontaneous and recurrent.
Telangiectasias: Multiple, at characteristic sites (lips, nose, fingers, etc.).
Visceral involvement: For example, AVMs in the lungs, liver, or brain.
Family history: A first-degree relative with HHT. Diagnosis: The presence of three or more criteria indicates definite HHT. Two criteria indicate possible HHT, and fewer than two criteria make HHT unlikely. Genetic testing can confirm the diagnosis, particularly in cases where clinical criteria are not definitive, or for at-risk family members.
Timeline of Symptoms
9. Timeline of symptoms
Childhood: Nosebleeds often begin in childhood and may be mild at first. Telangiectasias may start to appear.
Adolescence/Young Adulthood: Nosebleeds may become more frequent and severe. Telangiectasias become more prominent. Gastrointestinal bleeding may start.
Adulthood: AVMs in the lungs, liver, or brain may be detected. Complications related to these AVMs may arise (e.g., shortness of breath, stroke). The severity of symptoms varies widely between individuals.
Important Considerations
HHT is a highly variable condition. Symptoms and severity can differ greatly between individuals, even within the same family.
Early diagnosis and management are crucial to prevent serious complications.
Management is focused on treating symptoms and preventing or managing complications of bleeding and AVMs.
A multidisciplinary approach involving specialists in pulmonology, gastroenterology, neurology, otolaryngology (ENT), and genetics is often necessary.
Regular screening for AVMs is important, particularly in the lungs and brain.
Genetic testing is important for diagnosis and for family members who may be at risk.