Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder marked by frequent nosebleeds, skin telangiectasias, and potentially life-threatening arteriovenous malformations. Led by Dr. O and Dr. Waner, the Vascular Birthmark Institute offers expert diagnosis, multidisciplinary care, and treatment for individuals affected by this vascular condition.
What is Hereditary Hemorrhagic Telangiectasia (HHT)?
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic vascular disorder characterized by abnormal blood vessel formation. It leads to direct connections between arteries and veins, bypassing capillaries, which can result in frequent nosebleeds, visible skin telangiectasias, and internal arteriovenous malformations (AVMs) in organs such as the lungs, liver, and brain. Because HHT can cause life-threatening complications, early diagnosis and management are essential.
Signs & Symptoms of Hereditary Hemorrhagic Telangiectasia (HHT):
- Frequent and spontaneous nosebleeds (epistaxis)
- Small red or purple spots on the skin or mucous membranes (telangiectasias)
- Arteriovenous malformations (AVMs) in the lungs, liver, brain, or spine
- Gastrointestinal bleeding, often resulting in anemia
- Chronic iron deficiency anemia due to ongoing blood loss
- Shortness of breath or low oxygen levels from pulmonary AVMs
- Stroke-like symptoms or brain abscess from cerebral AVMs
- Headaches, seizures, or neurological changes
- Abdominal pain or liver dysfunction from hepatic AVMs
Treatments for Hereditary Hemorrhagic Telangiectasia (HHT)
At the Vascular Birthmark Institute, we understand that hereditary hemorrhagic telangiectasia (HHT) is a complex condition that requires personalized care. During your initial consultation, you’ll undergo a comprehensive evaluation, which may include genetic testing, imaging studies, and diagnostic procedures to assess for arteriovenous malformations (AVMs) in critical organs like the lungs, brain, or liver. Based on your specific symptoms and risks, our team—led by Dr. O and Dr. Waner—will develop a multidisciplinary treatment plan.
Nasal Hygiene and Care
Maintaining a moist and healthy nasal lining is essential for minimizing nosebleeds, one of the most common symptoms of HHT. You’ll be instructed on daily use of saline sprays, nasal lubricating ointments, and home humidification techniques to protect delicate blood vessels. Consistent nasal hygiene can significantly reduce irritation, prevent crusting, and decrease the likelihood of spontaneous bleeding. We also recommend having a personal nasal bleeding kit at home, which may include nasal packing materials for emergency use.
Medical Therapy
For patients who need additional support beyond nasal hygiene, we offer several medical therapies to reduce bleeding frequency. Tranexamic acid is often prescribed to help stabilize blood clots in the nasal vessels. N-acetylcysteine, an antioxidant, can improve nasal mucosa health. In some cases, we use intranasal beta-blocker gels, bevacizumab (Avastin), and/or topical propranolol to shrink abnormal vessels. These medications are carefully selected and monitored based on your medical history and response to treatment.
Surgical Procedures
If bleeding is severe and resistant to other treatments, surgery may be needed. Saunders’ septodermoplasty involves replacing fragile nasal mucosa with a skin graft from another part of your body. While this doesn’t cure HHT, it significantly reduces nosebleeds. Another option is Young’s procedure, which surgically closes the nostrils to completely prevent airflow and trauma to the nasal lining, stopping the bleeding but requiring permanent mouth breathing. These decisions are made carefully based on your condition and preferences.
Sclerotherapy
Sclerotherapy involves injecting a medication—often bleomycin—into the abnormal blood vessels to irritate and collapse them. When combined with lasers, this technique can prolong the disease-free interval and offer greater symptom relief. It’s particularly useful in cases where multiple or deeper vessels are involved and may be performed in stages for maximum effect.
Laser Therapy
When nosebleeds persist despite conservative care, laser treatment can precisely target and seal off the abnormal blood vessels (telangiectasias) inside the nose. We use diode or Nd:YAG lasers, which deliver highly focused energy through an endoscope to cauterize the affected vessels without damaging surrounding tissue. Depending on the extent of the disease, this procedure may be done in-office or under anesthesia in the operating room.
Treatment of Pulmonary AVMs
Pulmonary AVMs are abnormal connections between arteries and veins in the lungs. These can allow small clots or bacteria to bypass filtration and reach the brain, increasing your risk of a stroke. We may use a bubble contrast echocardiogram, followed by a CT scan or angiogram, to assess the severity of pulmonary AVMs. Treatment typically involves transcatheter embolization, a minimally invasive procedure where a catheter is used to insert tiny coils or plugs into the AVM, sealing it off and restoring normal circulation.
Treatment of Liver AVMs
HHT can also cause AVMs in the liver, which may lead to right upper abdominal pain, heart strain, or liver dysfunction. Depending on your symptoms, we may recommend angiography to map the affected vessels. Embolization is often used to block off problematic AVMs, though in severe cases where liver function is significantly compromised, a liver transplant may be considered. Our goal is to relieve symptoms while preserving liver health.
Genetic Counseling and Screening
Since HHT is inherited, we also offer genetic testing to confirm diagnosis and guide care for you and your family. If you test positive, we encourage screening for close relatives and monitoring younger family members for early signs. Understanding your genetic mutation also allows us to tailor your long-term care plan with precision.
Treatment of Brain and Spinal AVMs
Because brain AVMs carry the risk of bleeding and stroke, we often recommend brain MRI screening. If an AVM is detected, an angiogram helps us understand its architecture. Treatment options depend on size and location, but may include embolization, surgical resection, or radiosurgery. Spinal AVMs are rarer but also dangerous, potentially causing neurological symptoms or paralysis. If we suspect spinal AVMs, we will guide specialized treatments.
Facial Plastic and Reconstructive Surgery
Some patients with HHT develop facial telangiectasias or structural changes following multiple treatments. At the Vascular Birthmark Institute, Dr. O specializes in advanced facial plastic and reconstructive surgery techniques to restore natural appearance and function. Whether you need delicate laser resurfacing, skin grafts, or reconstructive procedures to address nasal deformities from prior surgeries, our team is equipped to deliver outstanding cosmetic and functional outcomes while preserving critical structures like the facial nerve.
Schedule Your Consultation
Vascular Birthmark Institute is a world-renowned center dedicated to diagnosing, treating, and managing complex vascular conditions like hereditary hemorrhagic telangiectasia (HHT). Led by Dr. O and Dr. Waner, our multidisciplinary team delivers personalized, cutting-edge care to help you manage symptoms and prevent serious complications. Whether you are experiencing frequent nosebleeds, visible telangiectasias, or internal AVMs, schedule your consultation to explore your treatment options for HHT.
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