What is the management approach for Osler-Weber-Rendu (Hereditary Hemorrhagic Telangiectasia, HHT) syndrome?

From the Guidelines

The management of Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia, HHT) requires a multidisciplinary approach focusing on screening, prevention of complications, and treatment of acute bleeding episodes, as outlined in the second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia 1.

Key Components of Management

• Initial management should include genetic testing and screening for arteriovenous malformations (AVMs) in the lungs, brain, and liver using contrast echocardiography, CT scans, or MRI.
• For epistaxis, which is the most common symptom, first-line treatments include humidification, nasal moisturizers, and avoiding nasal trauma.
• Topical treatments such as tranexamic acid applied locally can help control minor bleeding.
• For more severe epistaxis, options include laser photocoagulation, sclerotherapy, or surgical interventions like septal dermoplasty.
• Systemic medications for recurrent bleeding include oral tranexamic acid (typically 500-1000 mg three times daily), estrogen-progesterone preparations, or antiangiogenic agents like bevacizumab (5-10 mg/kg IV every 2-4 weeks for severe cases).
• Gastrointestinal bleeding is managed with endoscopic treatments, including argon plasma coagulation for accessible telangiectasias, and systemic therapies such as bevacizumab for moderate or severe GI bleeding 1.
• Iron supplementation (ferrous sulfate 325 mg daily or parenteral iron for severe deficiency) and blood transfusions may be necessary for anemia.
• Pulmonary AVMs require embolization by interventional radiology, while cerebral AVMs may need neurosurgical intervention.
• Regular follow-up with specialists in hematology, pulmonology, gastroenterology, and otolaryngology is essential for monitoring disease progression and adjusting treatments accordingly.
• Patient education about antibiotic prophylaxis before dental procedures is important to prevent brain abscesses in those with pulmonary AVMs. Some key points to consider in the management of HHT include:
• The use of systemic bevacizumab for patients with moderate or severe GI bleeding, as it has been shown to improve mean hemoglobin levels and reduce the need for red cell transfusions 1.
• The importance of genetic testing for HHT diagnosis, particularly for asymptomatic persons from a family with known HHT 1.
• The need for regular screening and preventive treatment to prevent HHT-related complications, such as pulmonary AVMs and cerebral AVMs 1.

From the Research

Management Approach for Osler-Weber-Rendu Syndrome

The management of Osler-Weber-Rendu syndrome, also known as Hereditary Hemorrhagic Telangiectasia (HHT), involves a multidisciplinary approach to address the various manifestations of the disease. Some key aspects of management include:

• Antifibrinolytic therapy: Used for mild-to-moderate bleeding manifestations, as demonstrated in studies 2.
• Antiangiogenic therapy: Utilized for moderate-to-severe bleeding, with drugs such as bevacizumab and pomalidomide showing promise 2, 3.
• Iron deficiency anemia management: Essential to prevent severe anemia, which can result from chronic bleeding 2, 4.
• Multidisciplinary care: Involving various medical specialties to address the different organ systems affected by HHT, including otolaryngology, hematology, and gastroenterology 3, 5.
• Screening and genetic testing: Important for early diagnosis and identification of family members at risk, with advancements in genetic testing supporting its use as a cost-effective measure 6.

Treatment Options

Treatment options for HHT-related bleeding and other manifestations include:

• Locoregional therapy: Although its efficacy is limited and short-lived, it may be used in certain cases 4.
• Systemic therapy: With drugs such as thalidomide showing potential in alleviating bleeding symptoms 4.
• Sclerotherapy: A safe and effective in-office treatment modality for telangiectasia 3.
• Bevacizumab: Used submucosally or topically, showing promise as an in-office treatment for HHT-related epistaxis 3.

Importance of Integrated Care

Integrated care within a multidisciplinary setting is crucial for the effective management of HHT, allowing for a standardized and timely approach to diagnosis and treatment 6, 5. This approach enables the coordination of care among various medical specialties, ensuring that patients receive comprehensive and optimal management for their condition.