Hereditary Hemorrhagic Telangiectasia: Septal Perforation and Nose Bleeds

About Dr. Jason Hamilton

Jason S. Hamilton, M.D. is the Director of Plastic and Reconstructive Surgery for the Osborne Head and Neck Institute based at Cedar-Sinai Medical Towers. Dr. Hamilton has advanced training in plastic and reconstructive surgical techniques involving the face, head, and neck, and limits his practice to the treatment of these areas exclusively.

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About Dr. Ryan Osborne

Ryan F. Osborne, M.D. is the Director of Head and Neck Surgery at OHNI and is an internationally renowned expert in head and neck oncology. He has developed a special interest for the treatment of parotid gland tumors and focuses on the use of minimally-invasive techniques in the care of patients needing parotid surgery.

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Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Disease, is a genetic disease that is characterized by the aberrant overgrowth and proliferation (dysplasia) of vascular tissue known as telangiectasias and arteriovenous malformations (AVMs). Because these newly formed vascular tissues are located at incorrect locations and improperly formed, they are prone to bleeding and in some cases, serious hemorrhage. HHT is highly variable and symptoms and prognosis depend on the severity of the disease’s clinical manifestations.

One of the most common manifestations of HHT is repeated and severe nose bleeds (epistaxis). When telangiectasia form in the nasal passages, repeated drying and trauma from sneezing or nose picking (rhinotillexis) can cause episodes of epistaxis. Traditional treatment of telangiectasias in the nasal cavities involves cautery that burns and seals the causative tissue. Because telangiectasias frequently form on or around the nasal septum, the process of cautery can result in perforation of the septum, leading to a series of nasal issues and potential complications.

Who is at Risk for HHT?

HHT is a rare autosomal dominant genetic disease that is usually seen within families. Because the gene for HHT is “dominant”, families with one parent suffering from HHT, have at least a 50% chance of having a child with HHT. Since HHT is passed from parent to child via genetic inheritance, the disease is not transmissible in any other fashion or contagious. Even though the gene for HHT is dominant, the pattern of disease expression and symptom manifestation can vary considerably even within the same family with some members displaying benign symptomatology and others developing more advanced clinical issues.

Figure 1: Nasal endoscopic view of the nasal passage demonstrating dried blood and scaly skin that would normally be pink and moist.
Figure 1: Nasal endoscopic view of the nasal passage demonstrating dried blood and scaly skin that would normally be pink and moist.

What are the symptoms of HHT?

HHT is a highly variable disease that can be clinically silent in some and severely debilitating in others. Milder cases present with repeated cases of nosebleeds, sometimes occurring at night during sleep. More advanced cases can result from arteriovenous malformations occurring within the bodies organ tissues such as the brain, lung, liver, gastrointestinal tract, urinary tract, trunk, and the arms and fingers.

Because nosebleeds are the most common manifestation of HHT, the remainder of this article focuses on the implications of HHT manifestation in the nasal cavities and subsequent complications such as nasal septal perforation.

What are the symptoms of a septal perforation?

Septal perforations can cause repeated episodes of nasal passage drying, crusty and dried mucus, whistling noises during respiration, and possible bleeding. In addition to these symptoms, septal perforations can grow in size over time, compromising the support structure of the nose, leading to depressions in the nose and other undesirable cosmetic changes.

Why should I have my septal perforation repaired?

The function of the nasal septum is to structure and organize the flow of air into the nasal passages. In addition the nasal septum serves to stabilize and support the structure of the nose. Compromise to the structure of the nasal septum can cause not only undesirable cosmetic changes but also result in functional complaints such as nasal obstruction or increased bleeding and dryness.

Who should repair my septal perforation?

Septal perforation repair should only be performed by a highly qualified and experienced surgeon. In the right hands, septal perforation repair and nasal reconstruction have a high success rate. For surgeons who rarely perform the surgery, success rates hover around 30%.

The physicians of the Osborne Head and Neck Institute are board certified in otolaryngology and plastic and reconstructive surgery. These surgeons carry a rare and complimentary subset of training specialties, allowing them to address not only the functional concerns of the nose but also the aesthetic implications of disease treatment.

To learn more about Dr. Jason Hamilton, septal perforation repair, or hereditary hemorrhagic telangiectasia, please visit