Hereditary Hemorrhagic Telangiectasia (HHT) Treatment
If you are looking for the most advanced and specialized treatment for Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease), we can help. At the Vascular Birthmark Institute of New York, we extend a wealth of experience and expertise when it comes to all vascular lesions.
We are pleased to offer patients our multidisciplinary team approach to patient care. Our practice includes specialists in otolaryngology, interventional radiology, as well as pediatric and adult hematology-oncology, and pulmonary. Genetic testing is also offered. Dr. O and her team make it a priority to provide world-class care in the diagnosis, treatment, management and research of HHT.
Help for Patients Suffering From Hereditary Hemorrhagic Telangiectasia
HEREDITARY HEMORRHAGIC TELANGIECTASIA
- Hereditary Hemorrhagic Telangiectasia (HHT) Treatment
- Hereditary Hemorrhagic Telangiectasia (HHT, Osler-Weber-Rendu) is a genetic disorder characterized by abnormally dilated blood vessels. The postcapillary beds are affected and small arteriovenous shunts occur. These can occur in all organ systems, however, the most common location is the nose, leading to nosebleeds or epistaxis. These nosebleeds may be minor or life-threatening causing need for blood transfusions and iron infusions.
- Telangiectasias most often occur on the face, chest and hands. They are small, widened blood vessels that can be bright red or purple, and they typically blanch with pressure. Unfortunately, telangiectasias increase in number as you age. At Vascular Birthmark Institute, we combine our multidisciplinary physician approach with our state-of-the-art facility and advanced technology to provide patients with solutions for hereditary hemorrhagic telangiectasia (HHT). We offer a wide range of treatment options including surgery, laser therapy, sclerotherapy and more. We also deliver unmatched expertise for patients who have AVMs.
- Other organ systems such as the lungs, liver, or brain may also have AVMs (arteriovenous malformations). These may be life-threatening if undiagnosed. Thus, patients are advised on appropriate testing to rule out lung or brain AVMs after the first consultation. Similar to other vascular malformations, HHT lesions will worsen over a lifetime.
- In patients with clinical symptoms, genetic testing is offered. If a family member is positive for a defect, close family members are also screened. Currently, there are 5 different identified genetic mutations.
- The management of HHT is multidisciplinary. Our team is comprised of specialists from otolaryngology-head and neck surgery, interventional radiology, pediatric and adult hematology-oncology, genetics, pulmonary, and basic science research.
- Epistaxis or nosebleeds
- The most common presenting symptom of HHT is frequent nosebleeds. There may also be a family history of a relative with nosebleeds.
- Therapy includes a combination of nasal hygiene and humidification, medical therapy, laser and surgery.
- Nasal hygiene and care
- Keeping the nasal lining moist is of utmost importance. Daily use of specialized lubricants and humidification are essential. If necessary, nasal tranexamic acid, and N-acetylcysteine may be used. Tranexamic acid is a medication used to treat excessive bleeding. It reduces the frequency of epistaxis by preventing the breakdown of clots. Intranasal beta-blocker gel therapy has also been shown to decrease the frequency of bleeds. N-acetylcysteine is also shown to be beneficial.
- A personal home kit for nasal bleeding is essential. Packing for the nose may temporize a situation.
- Medical care
- Bevacizumab (Avastin) is an inhibitor of blood vessel formation. A combined injection of this medication with intranasal laser treatment has been shown to be beneficial. There is some evidence to show a benefit to topical propranolol as well to decrease nosebleeds.
- Diode and Nd:YAG lasers may be used to successfully target telangiectasias in the nasal cavity. An endoscope is used to visualize the lesions and the laser is used to sequentially trace the fine vessels and to coagulate them. Depending on the extent of disease, the procedure may be performed in the office or the operating room. Lasers are very specific and cause selective damage to the blood vessels. In general, silver nitrate should not be used since there is a risk of septal perforation with injudicious chemical cautery.
- Sclerotherapy may be used alone or in combination with laser treatment. Bleomycin is a medication which has been shown to be very effective for vascular malformations. When combined with laser treatment, the disease-free interval is increased.
- Saunders’ septodermoplasty
- The principle behind this technique is to replace abnormal mucosa with skin from another part of the body. Unfortunately, lesions do recur over time and the nose may become dry and thus prone to bleeding.
- Young’s procedure
- This surgical procedure closes off the inside of the nose. No airflow enters the nose, and thus, no bleeding will occur. This is very effective but may also may be inconvenient since the patient is forced to breath only through the nose.
- Pulmonary AVMs
- Up to 50% of patients may have a pulmonary AVM. In type 1 HHT, the risk increases to 85%. Pulmonary AVMs have abnormal vasculature with a direct connection between high flow arteries and veins. Thus, emboli (small particles) may form and then dislodge into the brain causing brain abscess or stroke. This can be fatal. This abnormal vasculature also leads to pulmonary hypertension. A bubble echo test will help to delineate the presence of a pulmonary AVM. This test should be offered to patients with a clinical diagnosis as well as children of HHT patients. If the test shows evidence of a pulmonary AVM, an angiogram may also be performed to fully evaluate the vasculature.
- Treatment of Pulmonary AVM
- Transcathether embolization is used to treat AVMs.
- Liver lesions
- Patients may or may not complain of right upper quadrant abdominal pain. Angiography with embolization is used to treat these lesions. In very severe cases, patient may require a liver transplant.
- Brain and spinal AVMs
- Brain AVMs pose a risk of bleeding. Brain MRI is used to rule out the presence of an AVM. If positive, an angiogram will show the architecture of the AVM. Although the risk of bleeding is low, any bleed may be catastrophic. Spinal AVMs also pose a risk of bleeding and may cause stroke or other functional deficits.
- We are pleased to offer patients our multidisciplinary team approach to patient care. Our practice includes specialists in otolaryngology, interventional radiology, as well as pediatric and adult hematology-oncology, and pulmonary. Genetic testing is also offered. Dr. O and her team make it a priority to provide world-class care in the diagnosis, treatment, management and research of HHT.
If you or someone you know is suffering from the unwanted symptoms of HHT, contact our office today. We have a team of specialists waiting to help you get the specialized treatment you deserve to reduce the appearance of arteriovenous malformations on your skin.
- Nevus and other birthmarks
- We provide diagnosis and treatment of various pigmented and nonpigmented nevi. In cases where surgery is indicated, we use similar principles of facial plastic surgery to remove the lesion with excellent results.
- Children and adults with NF-1 (Neurofibromatosis Type 1) may present with plexiform neurofibromas. These lesions can be disfiguring and infiltrate tissues and affect bony growth. We can perform surgery to remove tumors, and create facial symmetry.
- Midfacial lesions where the facial nerve is at risk of injury.
- In many cases, the tumor or malformation will surround the facial nerve (nerve which activates all muscles of facial expression). At VBINY, we have developed nerve monitoring techniques which allow the surgeon a preview of the nerve map, then while working with a skilled neurophysiologist, we actively monitor nerve activity throughout the surgery. The technique was developed at our institution. Dr. O is an expert in facial nerve disorders and surgery. She and Dr. Waner have extensive experience in facial nerve dissection and preservation in these lesions.
- Facial Nerve weakness and reanimation
- Some patients present with facial weakness or paralysis after surgery. Our facial nerve expert (Dr. O) can evaluate your case and treat with various options for reconstructive surgery such as nerve and muscle transfers. Facial symmetry and a dynamic smile can be restored.