ORIGINAL ARTICLE
A new endoscopic staging system for hereditary hemorrhagic telangiectasia Douglas D. Reh, MD1 , Linda X. Yin, BA2 , Kulsoom Laaeq, MD3 and Christian A. Merlo, MD, MPH4
Background: Hereditary hemorrhagic telangiectasia (HHT) is predominantly characterized by nasal telangiectases that cause severe epistaxis. Recently, the Epistaxis Severity Score (ESS) was developed and validated as a standardized measurement to evaluate epistaxis treatment efficacy. We propose a new endoscopic staging system to characterize nasal findings in HHT patients and correlate this to the ESS.
had more than 4 nasal sites involved and (56.2%) had punctate telangiectases; 30.3% had mild crusting and 21.2% had moderate/severe crusting. These endoscopic findings were weighted by their correlation coefficients against epistaxis severity and normalized to create a new endoscopy score. Aer adjusting for confounding variables, the HHT Endoscopy Score (HES) was strongly associated with the ESS (r = 0.79, p < 0.001).
Methods: This is a prospective cohort study. A total of 33 individuals with HHT confirmed by Curac¸ao criteria were recruited and evaluated by a single otolaryngologist between August 2010 and February 2013. Endoscopic parameters including paerns and sites of telangiectases and degree of nasal crusting were used to construct an endoscopy score for each subject. Multiple linear regression models were used to correlate this endoscopy score to the ESS.
Conclusion: The HES correlates highly with patientreported epistaxis severity and may provide a useful outC 2014 ARS-AAOA, LLC. come measure in future studies.
Results: A total of 33 subjects completed the study. The mean ± standard deviation (SD) age was 50.3 ± 13.2 years, and 20 (60.6%) were female. In the cohort, mean ± SD ESS was 4.05 ± 2.13 (range, 0.50 to 8.22). Most subjects (53.1%)
H
ereditary hemorrhagic telangiectasia (HHT) or OslerWeber-Rendu syndrome has a prevalence of 1 in 5000,1 and is an autosomal-dominant disease characterized by the presence of recurrent epistaxis, mucosal telangiectasias involving the oral and nasal cavity, visceral arteriovenous malformations (AVMs) including pulmonary, cerebral, and hepatic, and a family history involving first-
1 Johns
Hopkins Sinus Center, Johns Hopkins Medicine, Baltimore, MD; Hopkins School of Medicine, Baltimore, MD; 3 Department of Surgery, Creighton University Medical Center, Omaha, NE; 4 Department of Medicine and Epidemiology, Johns Hopkins Medicine, Baltimore, MD 2 Johns
Correspondence to: Douglas D. Reh, MD, Department of Otolaryngology/ Head and Neck Surgery, Johns Hopkins Medicine, 601 N. Caroline St, 6th floor, 6240, Baltimore, MD 21287-0910; e-mail: [email protected] Potential conflict of interest: None. Preliminary results presented at the HHT Foundation International Scientific & Medical Conference on June 14th, 2013, Cork, Ireland. Received: 11 December 2013; Revised: 11 March 2014; Accepted: 23 March 2014 DOI: 10.1002/alr.21339 View this article online at wileyonlinelibrary.com.
635
International Forum of Allergy & Rhinology, Vol. 4, No. 8, August 2014
Key Words: hereditary hemorrhagic telangiectasia; epistaxis; nasal endoscopy; Osler Weber; staging How to Cite this Article: Reh DD, Yin LX, Laaeq K, Merlo CA. A new endoscopic staging system for hereditary hemorrhagic telangiectasia. Int Forum Allergy Rhinol. 2014;4:635–639.
degree relatives. The presence of 3 or more of these Curac¸ao criteria are used to establish the diagnosis of HHT.2 The most common symptom of HHT is recurrent epistaxis, which in many cases is caused by the presence of numerous mucosal telangiectasias. Rigid endoscopy is an essential tool for the evaluation and treatment of nasal telangiectasias and epistaxis in HHT patients. Procedures such as heat and laser cauterizations as well as septodermoplasty have been used to alleviate epistaxis by reducing the size and number of nasal mucosal telangiectasias.3–6 Mahoney et al.7 described 3 vascular patterns of nasal telangiectasias including isolated punctuate telangiectasias, diffuse interconnecting vasculature, and large solitary arteriovenous malformations; they sought to characterize these vascular types by their improvement after neodymiumdoped yttrium aluminum garnet (Nd:YAG) laser coagulation. Folz et al.8 described the morphology and distribution of HHT-associated telangiectasias. They found that there was generally a higher density of telangiectasias towards the anterior portion of the nasal septum. There was no predilection of phenotype of blood vessels based on gender,
Reh et al.
FIGURE 1. Patterns of telangiectasias inside the nose.
although advanced age correlated with a higher density of telangiectasias. Recently, a validated scoring index, the Epistaxis Severity Score (ESS), was developed at Johns Hopkins as a standardized measure of epistaxis severity.9 The purpose of this study was to analyze patterns, sites, and density of nasal telangiectasias as well as other common findings seen on the endoscopic examination of HHT patients in order to develop an endoscopic staging system that correlates with the previously developed ESS.
Patients and methods This is a cohort study of HHT patients evaluated by the senior author (D.D.R.) for HHT related epistaxis between August 13, 2010 and February 14, 2013 at the Johns Hopkins Department of Otolaryngology. Following the Johns Hopkins Institutional Review Board approval of this study, patients were enrolled if they presented for evaluation with at least 3 of the Curac¸ao criteria for HHT or confirmed genetic testing for mutations in the endoglin gene (ENG) and activin A receptor type II-like 1 (ACVRL1) gene.2 All rigid diagnostic nasal endoscopy exams were performed by a single otolaryngologist (D.D.R.). Exams were performed in an atraumatic manner, and none of the patients experienced episodes of epistaxis during endoscopic evaluation. Endoscopic findings including the density and location of telangiectasias, vascular morphology or patterns (Fig. 1), relative percentage of arteriovenous malformations, degree of crusting (Fig. 2), and the presence of septal perforations were recorded. In addition, the total number of nasal sub-
FIGURE 2. Degrees of crusting inside the nose. Severe crusting requires complete obstruction of the nasal passage.
sites involved with telangiectasias was also recorded such that affected sites (anterior and posterior septum, middle and inferior turbinate) in each side of the nose were counted individually and added to give a total possible score of 8. The extent of nasal locations affected by telangiectasias was then assigned a severity rating under the parameter “Locations.” The presence of telangiectasias in posterior portions of the nose (middle turbinate, posterior septum) was hypothesized to represent more severe disease than the presence of telangiectasias in only the anterior portion of the nose (anterior septum, inferior turbinate) and therefore was assigned a higher score. A severity score of 0 to 3 was assigned to each endoscopic parameter and the ESS was also calculated for each patient. In patients with significant crusting inside the nose, the crusts were moved in order to assess the distribution and morphology of telangiectasias. Table 1 demonstrates the endoscopic scoring sheet used to record these variables. The endoscopic parameters Location, Density, and AVMs were represented as absolute numbers on a scale of 0 to 3. After an initial regression analysis was performed, Sites was changed into a binary variable; a score of 1 indicates 10 mm
5–10 mm
2–4 mm
A new endoscopic staging system for hereditary hemorrhagic telangiectasia Douglas D. Reh, MD1 , Linda X. Yin, BA2 , Kulsoom Laaeq, MD3 and Christian A. Merlo, MD, MPH4
Background: Hereditary hemorrhagic telangiectasia (HHT) is predominantly characterized by nasal telangiectases that cause severe epistaxis. Recently, the Epistaxis Severity Score (ESS) was developed and validated as a standardized measurement to evaluate epistaxis treatment efficacy. We propose a new endoscopic staging system to characterize nasal findings in HHT patients and correlate this to the ESS.
had more than 4 nasal sites involved and (56.2%) had punctate telangiectases; 30.3% had mild crusting and 21.2% had moderate/severe crusting. These endoscopic findings were weighted by their correlation coefficients against epistaxis severity and normalized to create a new endoscopy score. Aer adjusting for confounding variables, the HHT Endoscopy Score (HES) was strongly associated with the ESS (r = 0.79, p < 0.001).
Methods: This is a prospective cohort study. A total of 33 individuals with HHT confirmed by Curac¸ao criteria were recruited and evaluated by a single otolaryngologist between August 2010 and February 2013. Endoscopic parameters including paerns and sites of telangiectases and degree of nasal crusting were used to construct an endoscopy score for each subject. Multiple linear regression models were used to correlate this endoscopy score to the ESS.
Conclusion: The HES correlates highly with patientreported epistaxis severity and may provide a useful outC 2014 ARS-AAOA, LLC. come measure in future studies.
Results: A total of 33 subjects completed the study. The mean ± standard deviation (SD) age was 50.3 ± 13.2 years, and 20 (60.6%) were female. In the cohort, mean ± SD ESS was 4.05 ± 2.13 (range, 0.50 to 8.22). Most subjects (53.1%)
H
ereditary hemorrhagic telangiectasia (HHT) or OslerWeber-Rendu syndrome has a prevalence of 1 in 5000,1 and is an autosomal-dominant disease characterized by the presence of recurrent epistaxis, mucosal telangiectasias involving the oral and nasal cavity, visceral arteriovenous malformations (AVMs) including pulmonary, cerebral, and hepatic, and a family history involving first-
1 Johns
Hopkins Sinus Center, Johns Hopkins Medicine, Baltimore, MD; Hopkins School of Medicine, Baltimore, MD; 3 Department of Surgery, Creighton University Medical Center, Omaha, NE; 4 Department of Medicine and Epidemiology, Johns Hopkins Medicine, Baltimore, MD 2 Johns
Correspondence to: Douglas D. Reh, MD, Department of Otolaryngology/ Head and Neck Surgery, Johns Hopkins Medicine, 601 N. Caroline St, 6th floor, 6240, Baltimore, MD 21287-0910; e-mail: [email protected] Potential conflict of interest: None. Preliminary results presented at the HHT Foundation International Scientific & Medical Conference on June 14th, 2013, Cork, Ireland. Received: 11 December 2013; Revised: 11 March 2014; Accepted: 23 March 2014 DOI: 10.1002/alr.21339 View this article online at wileyonlinelibrary.com.
635
International Forum of Allergy & Rhinology, Vol. 4, No. 8, August 2014
Key Words: hereditary hemorrhagic telangiectasia; epistaxis; nasal endoscopy; Osler Weber; staging How to Cite this Article: Reh DD, Yin LX, Laaeq K, Merlo CA. A new endoscopic staging system for hereditary hemorrhagic telangiectasia. Int Forum Allergy Rhinol. 2014;4:635–639.
degree relatives. The presence of 3 or more of these Curac¸ao criteria are used to establish the diagnosis of HHT.2 The most common symptom of HHT is recurrent epistaxis, which in many cases is caused by the presence of numerous mucosal telangiectasias. Rigid endoscopy is an essential tool for the evaluation and treatment of nasal telangiectasias and epistaxis in HHT patients. Procedures such as heat and laser cauterizations as well as septodermoplasty have been used to alleviate epistaxis by reducing the size and number of nasal mucosal telangiectasias.3–6 Mahoney et al.7 described 3 vascular patterns of nasal telangiectasias including isolated punctuate telangiectasias, diffuse interconnecting vasculature, and large solitary arteriovenous malformations; they sought to characterize these vascular types by their improvement after neodymiumdoped yttrium aluminum garnet (Nd:YAG) laser coagulation. Folz et al.8 described the morphology and distribution of HHT-associated telangiectasias. They found that there was generally a higher density of telangiectasias towards the anterior portion of the nasal septum. There was no predilection of phenotype of blood vessels based on gender,
Reh et al.
FIGURE 1. Patterns of telangiectasias inside the nose.
although advanced age correlated with a higher density of telangiectasias. Recently, a validated scoring index, the Epistaxis Severity Score (ESS), was developed at Johns Hopkins as a standardized measure of epistaxis severity.9 The purpose of this study was to analyze patterns, sites, and density of nasal telangiectasias as well as other common findings seen on the endoscopic examination of HHT patients in order to develop an endoscopic staging system that correlates with the previously developed ESS.
Patients and methods This is a cohort study of HHT patients evaluated by the senior author (D.D.R.) for HHT related epistaxis between August 13, 2010 and February 14, 2013 at the Johns Hopkins Department of Otolaryngology. Following the Johns Hopkins Institutional Review Board approval of this study, patients were enrolled if they presented for evaluation with at least 3 of the Curac¸ao criteria for HHT or confirmed genetic testing for mutations in the endoglin gene (ENG) and activin A receptor type II-like 1 (ACVRL1) gene.2 All rigid diagnostic nasal endoscopy exams were performed by a single otolaryngologist (D.D.R.). Exams were performed in an atraumatic manner, and none of the patients experienced episodes of epistaxis during endoscopic evaluation. Endoscopic findings including the density and location of telangiectasias, vascular morphology or patterns (Fig. 1), relative percentage of arteriovenous malformations, degree of crusting (Fig. 2), and the presence of septal perforations were recorded. In addition, the total number of nasal sub-
FIGURE 2. Degrees of crusting inside the nose. Severe crusting requires complete obstruction of the nasal passage.
sites involved with telangiectasias was also recorded such that affected sites (anterior and posterior septum, middle and inferior turbinate) in each side of the nose were counted individually and added to give a total possible score of 8. The extent of nasal locations affected by telangiectasias was then assigned a severity rating under the parameter “Locations.” The presence of telangiectasias in posterior portions of the nose (middle turbinate, posterior septum) was hypothesized to represent more severe disease than the presence of telangiectasias in only the anterior portion of the nose (anterior septum, inferior turbinate) and therefore was assigned a higher score. A severity score of 0 to 3 was assigned to each endoscopic parameter and the ESS was also calculated for each patient. In patients with significant crusting inside the nose, the crusts were moved in order to assess the distribution and morphology of telangiectasias. Table 1 demonstrates the endoscopic scoring sheet used to record these variables. The endoscopic parameters Location, Density, and AVMs were represented as absolute numbers on a scale of 0 to 3. After an initial regression analysis was performed, Sites was changed into a binary variable; a score of 1 indicates 10 mm
5–10 mm
2–4 mm
