From the Guidelines
The management of Osler-Weber-Rendu syndrome (HHT) focuses on preventing complications and treating symptoms through a multidisciplinary approach, as recommended by the second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia 1.
Key Components of HHT Management
- Screening for arteriovenous malformations (AVMs) in the lungs, brain, and liver to identify potential bleeding sources
- Treatment of epistaxis (nosebleeds) with humidification, nasal moisturizers, and avoiding trauma, as well as topical treatments such as tranexamic acid applied locally for minor bleeding
- Systemic medications including oral tranexamic acid (500-1000mg three times daily) or hormonal therapies like estrogen-progesterone combinations for more severe epistaxis
- Bevacizumab, an anti-VEGF agent, can be administered intravenously (5-10mg/kg every 2-3 weeks) or as a nasal spray for refractory cases
- Procedural interventions include laser photocoagulation, sclerotherapy, embolization, or surgical options for severe recurrent bleeding
- Gastrointestinal bleeding is managed with endoscopic treatments and iron supplementation (ferrous sulfate 325mg daily) or intravenous iron for iron deficiency anemia
- Regular monitoring of hemoglobin levels is essential, and blood transfusions may be necessary for severe anemia
- Genetic counseling should be offered to patients and families due to the autosomal dominant inheritance pattern
Recent Guidelines and Recommendations
The second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia provide evidence-based consensus guidelines for the management and prevention of HHT-related symptoms and complications 1. These guidelines highlight new evidence in existing topics and provide guidance in new areas such as anemia, pediatrics, and pregnancy and delivery.
Treatment of PAVMs
Pulmonary arteriovenous malformations (PAVMs) are a common feature of HHT, and treatment involves endovascular occlusion of the feeding artery or surgical resection 1. Percutaneous transcatheter embolization is typically performed for the treatment of PAVMs, and follow-up CT angiography is recommended to detect persistence or new lesions.
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 with appropriate diagnosis, screening, and local and/or systemic management of lesions 2.
Diagnosis and Screening
Diagnosis of HHT is clinical, based on the Curaçao criteria, and genetic mutations such as ENG, ACVRL1/ALK1, and MADH4/SMAD4 have been identified 2, 3. Molecular genetic testing is used to establish the genetic subtype of HHT in a clinically affected individual and family, and for early diagnosis to allow for appropriate screening and preventive treatment 3.
Treatment Options
Treatment options for HHT include:
- Anti-angiogenic agents such as bevacizumab, which have emerged as a promising systemic therapy in reducing bleeding complications but are not curative 2
- Iron supplementation, antifibrinolytics, and hormonal treatment 2
- Selective transarterial embolization using a liquid embolic agent for splenic vascular malformations 4
- Argon plasma coagulation and clip placement for gastrointestinal bleeding 5
- Proton pump inhibitor infusion and iron infusion for upper gastrointestinal bleeding 5
Complications and Organ Involvement
HHT can involve various organs, including the lungs, brain, liver, spinal cord, and gastrointestinal tract, and can cause life-threatening complications depending on their location and size 3, 4, 6. The sequelae of visceral organ involvement include ischemic stroke, cerebral bacterial abscesses, intracranial hemorrhage, chronic hypoxia, dyspnea with exertion, pulmonary hypertension, high output heart failure, gastrointestinal bleeds, and liver failure 6.
Management Strategy
The management strategy for HHT involves a "watch-and-wait" approach for patients without other HHT-related symptoms and no silent arteriovenous malformations (AVMs) in other organs 5. However, effective treatment of gastrointestinal telangiectasias is not always available and still lacks standardization, making the management of gastroenterological involvement a challenging issue 5.