Introduction
Hereditary haemorrhagic telangiectasia, or Osler–Weber–Rendu syndrome, first appeared in the literature in 1864, when Sutton described it as a disorder of epistaxis and degeneration of the vascular system.Reference Sutton1 It is a complex, systemic disorder characterised by telangiectases, arteriovenous malformations and aneurysms.Reference Guttmacher, Marchuk and White2 Hereditary haemorrhagic telangiectasia is a familial disorder with autosomal dominant, non-sex linked inheritance. Its incidence is about one in 8000 and it has equal sex preponderance.Reference Cotran, Vinay and Collins3, Reference Soriano, Petros and Mckinsey4 Mutations on the long arm of chromosomes 9 and 12 are implicated. The resultant protein deficiencies produce an abnormal vascular architecture at the affected sites, prone to damage with minimal trauma.Reference Soriano, Petros and Mckinsey4, Reference Marchuk5
The telangiectases occur at multiple mucocutaneous sites. It is their presence within the nasal mucosa which brings them to the attention of the ENT surgeon. Epistaxis is the most frequent manifestation of hereditary haemorrhagic telangiectasia. The symptom tends to start in the third decade and in the majority of patients will progressively worsen over the ensuing years.Reference Saunders6, Reference Ross and Jassin7
Patients with moderate to severe nasal disease present a difficult management challenge. Various treatments are described in the literature, including those aimed at reducing nasal airflow. It is thought that eliminating airflow through the nose protects the mucosa from traumatic injury, thus decreasing the frequency of epistaxis.Reference Lund and Howard8, Reference Gluckman and Portugal9
We present a case in which reduction in nasal airflow was produced by the patient's coexisting nasal polyp disease. The intranasal polyps mimicked a Silastic® obturator,Reference Woolford, Loke and Bateman10 producing a dramatic reduction in bleeding.
Case report
A 56-year-old woman with type I familial hereditary haemorrhagic telangiectasia had suffered with severe, recurrent epistaxis for over 19 years. Incidentally, she had also suffered with nasal polyp disease. The epistaxis had progressively worsened over the years. The patient had tried a multitude of treatments, all with short-lived benefit, including electro-cautery under general anaesthesia, topical and systemic oestrogen therapy, and oral antifibrinolytics.
The patient had been fitted with a Silastic obturator in 1998, which she had successfully used until 2004, when her asthma worsened and she found wearing the obturator uncomfortable. Unfortunately, her daily epistaxis had resumed.
During an out-patients clinic appointment, the patient revealed that, for the last six months, her epistaxis had all but ceased. However, she did complain of nasal obstruction and anosmia.
Endoscopic nasal examination revealed bilateral nasal polyposis completely obstructing both nasal airways. The nasal polyps had enlarged over the year and were now acting as a physiological obturator, reducing the airflow through the nose.
Fig. 1 Endoscopic view of the patient's polyps, which acted as physiological obturators. Note also the multiple mucosal telangiectases.
The situation was discussed with the patient and a mutual decision made to leave the polyps untreated.
Discussion
Young's procedure and Silastic nasal obturators are treatment modalities which aim to reduce nasal airflow. Young's procedure, first described by Taylor and Young in 1961, involves complete surgical closure of one or both nasal cavities.Reference Young11 Bilateral surgical closure of the nasal cavities is the only known treatment modality to produce complete cessation of bleeding in cases of hereditary haemorrhagic telangiectasia. Bilateral closure eliminates airflow through the nose, protecting the mucosa from traumatic injury.Reference Lund and Howard8, Reference Gluckman and Portugal9 A study by Lund and Howard found that, despite the psychological stress of the procedure, patients reported an improved quality of life afterwards.Reference Lund and Howard8
• Most patients with hereditary haemorrhagic telangiectasia suffer with frequent episodes of epistaxis
• The authors present a patient with hereditary haemorrhagic telangiectasia who experienced cessation of her recurrent, refractory epistaxis through the development of coexisting polyp disease
• The patient's enlarged, grade three nasal polyps behaved as physiological obturators, limiting airflow through her nose. This reduced the intranasal trauma and subsequent frequency of her nosebleeds
Silastic nasal obturators provide an alternative to complete surgical closure. They eliminate nasal airflow in the same manner but are a temporary measure which the patient may remove at will, giving the patient some control over their illness.Reference Woolford, Loke and Bateman10 Although Silastic obturators do not offer complete cessation of bleeding, they are a non-invasive, non-surgical technique offering vast improvement in the patient's frequency of epistaxis.
Our patient's bilateral, grade three nasal polyps mimicked the action of Silastic obturators. They occluded both nostrils, reducing the traumatic airflow through the nose, and produced complete cessation of our patient's severe, recurrent epistaxis. Despite the resulting anosmia and nasal obstruction, our patient decided to leave her polyps untreated, as she was more tolerant of these symptoms than the recurrent epistaxis to which she had been subject for many years.
Conclusion
This case highlights the effect on epistaxis in hereditary haemorrhagic telangiectasia if nasal airflow ceases. Our patient's symptoms improved because the polyps within her nose were behaving as physiological obturators. This also avoided the need for any further surgical treatment or recurrent nasal packing, improving her quality of life.
