Epistaxis in hereditary hemorrhagic telangiectasia: an evidence based review of surgical management
© Chin et al. 2016
Received: 24 August 2015
Accepted: 5 January 2016
Published: 12 January 2016
Patients with Hereditary Hemorrhagic Telangiectasia (HHT) frequently present with epistaxis. Up to 98 % of these patients will have epistaxis at some point in their life. There are multiple ways to deal with this problem, including conservative, medical and surgical options. We present a case and an update on the treatment options for HHT, with a focus on the newer and experimental techniques.
KeywordsHHT Epistaxis Osler-Weber-Rendu Surgery
A 37 year old male presented with recurrent epistaxis as well as multiple telangiectasias of his fingers and anterior tongue. He was previously diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT) at an outside institution. An MRI of his head was completed which did not demonstrate any evidence of an intracranial arteriovascular malformation (AVM). Bubble cardiography, used to detect AVMs in the lungs, was also read as negative. As the finger lesions were most bothersome to the patient, the risks of benefits of treating them with a YAG laser were discussed and the patient elected to proceed.
Although the patient initially had a good result, he experienced recurrence of his digital telangiectasias approximately 1 year later, and he started to become more symptomatic from his nasal lesions. Treatment with YAG laser was again undertaken, with good result. As a result of his frequent episodes of epistaxis, the patient eventually developed iron-deficiency anemia, which was treated with iron infusions (as the patient was unable to tolerate oral iron supplementation). He required treatment with YAG laser for the telangiectasias on average every 2 years, with his anemia being maintained with iron infusions. His epistaxis was frequent, but remained controllable with pressure.
Unfortunately, he recently presented to the emergency room with shortness of breath and his hemoglobin was found to be 87. He also reported melena stools. Following transfusion and stabilization he was re-assessed in our outpatient Otolaryngology- Head & Neck Surgery clinic where management with septodermoplasty was entertained to address the epistaxis. Alternative therapies, such as coblation and Bevacizumab (Avastin) are also being considered. The patient is currently weighing the risks and benefits of these treatment options.
Hereditary Hemorrhagic Telangiectasia, also known as Osler-Weber-Rendu (OWR) syndrome, was described nearly 120 years ago . In 1896 Rendu described a syndrome of recurrent epistaxis and telangiectasias that was distinct from hemophilia ; this was followed by reports from Osler  (in 1901) and Weber  (in 1907). It is the constellation of recurrent epistaxis, familial inheritance, AVMs and mucocutaneous telangiectasias that now bears their names. The prevalence of HHT is approximately 1 in 5000, but there is large geographic variability . The highest report rates are in Afro-Caribbean residents of the Netherlands Antilles, with an incidence of approximately 1 in 1331 .
While epistaxis is the most commonly encountered symptom for Otolaryngologists, there are many other manifestations such as arterio-venous malformations (AVMs) of the lungs and gastrointestinal (GI) tract. As such, these patients are best managed in a multi-disciplinary setting . International guidelines were created in 2011 that summarize the workup and management of the various manifestations of HHT . In summary, treatment should be considered for asymptomatic cerebral and pulmonary AVMs because of their potential catastrophic and life-threatening presentations. When patients are symptomatic with GI, liver or oral cavity bleeding, treatment should also be considered. Close follow-up is required for all these patients.
Epistaxis is the most common symptom reported in these patients and affects up to 98 % [6, 9, 10]. Approximately 50 % will have epistaxis by the age of 20 . As such, Otolaryngologist - Head and Neck Surgeons are frequently involved in the management of these patients. These episodes can range from minimally bothersome to life-threatening. The Epistaxis Severity Score is a validated and useful outcome measure that was designed specifically for HHT and can be easily used to gauge disease severity and the effect of treatment .
There are various different treatment options available for epistaxis in HHT, with many new advances and innovations being developed in the past few years. In the acute setting, nasal packing with absorbable material, manual pressure, and fluid resuscitation remain the mainstays of therapy. This article will focus mostly on the new surgical advances in the long-term management of this challenging disease.
A literature review of articles and abstracts on PubMed was completed. Search terms includes “HHT” and “Osler-Weber-Rendu”, as well as “HHT epistaxis” and “Osler-Weber-Rendu epistaxis”. Abstracts were then reviewed, and those abstracts that focused on the management and treatment of HHT were selected for inclusion.
In total, 37 articles were reviewed and summaries of the evidence were generated based on these articles. Two reviewers (CJC, BWR) reviewed the articles separately to ensure concordance.
There is a paucity of evidence regarding conservative therapy for epistaxis in HHT, and epistaxis in general. Anecdotally, it is said that patients should keep the nose well hydrated through the use of saline rinses and with humidification . Barrier creams and topical emollients are also routinely used . In the case of HHT, the patient must be instructed to be particularly careful when applying the treatment (barrier or saline irrigations) as the telangiectasias are extremely fragile and have a tendency to bleed when manipulated (Additional file 1: Video 1).
Recently, the group at Johns Hopkins has investigated the application of Sesame/Rose Geranium oil (RGO) for control of epistaxis in HHT. In a 2013 study, they found a significant improvement in the Epistaxis Severity Score in patients using RGO. The authors theorize that the benefit from application of RGO is nasal hydration and formation of a durable protective layer, but note is made that further investigation is required to delineate the mechanism of action .
Summary: Conservative therapies have a low risk profile. Although the evidence is lacking for these therapies, they can be considered as a non-invasive first line therapy in all HHT patients with troublesome epistaxis because the risk to the patient is minimal.
Summary: The evidence for hormonal therapy in HHT is limited. Some studies have demonstrated efficacy, but there is the potential for systemic side effects.
Summary: There is recent evidence that suggests Bevacizumab can reduce the frequency and severity of epistaxis in HHT patients. Care should be exercised when injecting into the cartilaginous septum so as to decrease risk of septal perforation.
Summary: There is limited evidence to support the use Timolol, with the potential for harm (bradycardia).
Summary: There is limited evidence supporting the use Thalidomide in HHT. A recent review suggests it may be useful in refractory cases.
Summary: The existing studies show benefit for sclerotherapy. Further research into this treatment modality is warranted.
Summary: The existing studies show benefit for TA. Further research is warranted.
Summary: There is limited evidence to support the use of NAC currently.
There are many different surgical approaches available for the treatment of HHT. As with medical therapy, a stepwise approach should be considered.
Multiple techniques have been used to coagulate the telangiectasias that are seen. Bipolar cautery was shown to be a useful option for treatment of epistaxis in HHT by Ghaderi . Laser photocoagulation is also a popular option, and many different wavelengths of laser exist. Typically, a laser with higher tissue penetration that uses hemoglobin as a chromophore, such as the Nd:YAG laser, is preferred over a laser with less surface penetration. One challenge with the laser is that not all lasers can be used with flexible fibres, and therefore reaching further posterior in the nose can be difficult. As well, the increased thermal damage to surrounding tissue is a concern, and is why some authors prefer to use Coblation or ultrasonic vibration devices.
Summary: The laser and bipolar are effective surgical treatments for epistaxis. Head to head comparison is lacking and is required to determine which is most effective. The data supporting use of an ultrasonic device in HHT is currently limited.
Summary: In the few available studies, the Coblation device has been successful in improving epistaxis in HHT and could be considered a viable alternative to coagulation and laser.
Septodermoplasty involves removing the affected anterior septal mucosa and replacing it with a full- or split-thickness skin graft, laying it on top of the remaining perichondrium . The nasal floor mucosa and lateral wall mucosa can also be removed as needed . It has been shown to reduce the need for multiple laser procedures by up to 57 % .
Summary: For refractory epistaxis in HHT patients, septodermoplasty can be considered an invasive, but useful, treatment.
Summary: Embolization is infrequently recommended for the management of epistaxis in HHT and the evidence is limited.
Summary: Young’s procedure is effective, but it must be weighed against the expected changes in smell and taste as well as long-term risks to the patient. This procedure may have a role in select cases when employed as unilateral treatment.
Epistaxis is the most frequent manifestation of HHT and it can range from mildly irritating to life threatening. In the past 5 years there have been significant gains in both the medical and surgical options available to the practicing clinician for use in this frustrating condition. Clinical treatment should start with conservative options, which have a very low risk profile and the chance for improvement in symptoms. The medical therapy with the best supporting body of research is Bevacizumab, Surgical therapies should be approached in a stepwise manner, escalating as needed to treat the patient while at the same time minimizing risk of septal perforation.
Hereditary Hemorrhagic Telangiectasia
Randomized Controlled Trial
Rose Geranium Oil
Sodium Tetradecyl Sulfate
Vascular Endothelial Growth Factor
No funding was received for this study.
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