BACKGROUND:Epistaxis is the most common and burdensome manifestation of hereditary hemorrhagic telangiectasia (HHT). Bleeding severity measures do not capture the functional and emotional impact of recurrent epistaxis, highlighting the need for symptom-specific patient-reported outcome measures. This study translated and validated the Nasal Outcome Score for Epistaxis (NOSE-HHT) for Norwegian-speaking patients and evaluated whether a shortened version could be developed. METHODS:In this cross-sectional validation study, adult patients with HHT were recruited from a national tertiary referral center between October 2024 and March 2025. Psychometric evaluation followed COSMIN guidelines and included assessment of internal consistency, test-retest reliability, structural validity, construct validity, responsiveness, and item-level performance. Participants were allocated to cohorts for cross-sectional validation and item reduction (n = 157), responsiveness (n = 31), and test-retest reliability (n = 47). RESULTS:A total of 235 patients were included (mean age 58.0 ± 13.5 years; 53% men). The Norwegian NOSE-HHT demonstrated excellent internal consistency (Cronbach's α = 0.955) and good test-retest reliability (ICC = 0.77; 95% CI, 0.63-0.87). Structural validity supported a single dominant underlying construct, and construct validity was confirmed by correlations with epistaxis severity and quality-of-life measures. Short-term responsiveness was limited despite improvement in bleeding-specific anchors. Item reduction yielded a 23-item version closely matching the full instrument (r = 0.995). CONCLUSION:The Norwegian NOSE-HHT is a valid and reliable instrument for assessing epistaxis-related symptom burden in HHT. A shortened version reduces respondent burden and may facilitate use in clinical practice and future interventional studies.

BackgroundThe pericranial flap is a reliable option for reconstructing the anterior skull base in extended endoscopic endonasal procedures when the nasoseptal flap is unavailable or insufficient.MethodsWe describe a minimally invasive and fast technique for harvesting a vascularized pericranial flap using a three-dimensional exoscope through a small frontal incision, with simultaneous endoscopic endonasal placement, for anterior skull base reconstruction.ConclusionExoscope-assisted pericranial flap harvest provides excellent visualization, ergonomics, and flap control, enabling reliable orbit-to-orbit coverage of large anterior skull base defects with low donor-site morbidity when intranasal vascularized options are limited.

Introduction Nearly all patients with primary ciliary dyskinesia (PCD) report ear–nose–throat (ENT) symptoms. However, scarce evidence exists about how ENT symptoms relate to pulmonary disease in PCD. We explored possible associations between upper and lower respiratory disease among patients with PCD in a multicentre study. Methods We included patients from the ENT Prospective International Cohort (EPIC-PCD). We studied associations of several reported ENT symptoms and chronic rhinosinusitis (defined using patient-reported information and examination findings) with reported sputum production and shortness of breath, using ordinal logistic regression. In a subgroup with available lung function results, we used linear regression to study associations of chronic rhinosinusitis and forced expiratory volume in 1 s (FEV 1 ) accounting for relevant factors. Results We included 457 patients (median age 15 years, interquartile range 10–24 years; 54% males). Shortness of breath associated with reported nasal symptoms and ear pain of any frequency, often or daily hearing problems, headache when bending down (OR 2.1, 95% CI 1.29–3.54) and chronic rhinosinusitis (OR 2.3, 95% CI 1.57–3.38) regardless of polyp presence. Sputum production associated with daily reported nasal (OR 2.2, 95% CI 1.20–4.09) and hearing (OR 2.0, 95% CI 1.10–3.64) problems and chronic rhinosinusitis (OR 2.1, 95% CI 1.48–3.07). We did not find any association between chronic rhinosinusitis and FEV 1 . Conclusion Reported upper airway symptoms and signs of chronic rhinosinusitis associated with reported pulmonary symptoms, but not with lung function. Our results emphasise the assessment and management of upper and lower respiratory disease as a common, interdependent entity among patients with PCD.

Introduction::Choanal atresia (CA) is a congenital narrowing or obliteration of the posterior nasal aperture. The condition is rare with an incidence of approximately 1 in 5000 to 9000 live births.Objective::The aim of this work was to assess the results of treating this condition at the Otolaryngology Department in Oslo University Hospital‐Rikshospitalet.Methods::Retrospective review of patients treated at Oslo University Hospital‐Rikshospitalet between 2005 and 2015 were performed. The review consisted of surgical techniques and outcomes, types of atresia, uses of stent and mitomycin C, age at operation, laterality of atresia, and associated anomalies.Results::Thirty‐one patients with CA were referred to Oslo University Hospital‐Rikshospitalet during the mentioned observation period. Nine (29%) of the cases had bilateral CA and 22 (71%) had unilateral CA. Ten patients (32%) had bony atresia, 12 (39%) had membranous and eight (26%) had mixed type of atresia. Twenty‐one patients (68%) needed revision surgery because of complete or partial restenosis after primary surgery. Stents were applied in 16 cases (52%) of patients and Mitomycin C was only used in the primary surgery of three patients. In the bilateral group, eight of the nine patients were operated on within the first 9 days of life. Sixteen patients (45%) had associated anomalies.Conclusions::According to the observations in our sample, the restenosis problem is expected more and may need more revisions in bilateral CA than the unilateral type. The presence of other anomalies is associated with higher incidence of restenosis. Stenting is not essential in preventing restenosis.

Background Recurrent infections of the nose, sinuses and ears are common problems for people with primary ciliary dyskinesia. While pulmonary exacerbations in primary ciliary dyskinesia are defined, there is no definition for ear-nose-throat exacerbations, a potential outcome for research and clinical trials. Methods We set up an expert panel of 24 ear-nose-throat specialists, respiratory physicians, other healthcare professionals and patients to develop consensus definitions of sinonasal and otological exacerbations in children and adults with primary ciliary dyskinesia for research settings. We reviewed the literature and used a modified Delphi approach with four electronic surveys. Results Definitions for both sinonasal and otological exacerbations are based on a combination of major and minor criteria, requiring three major or two major and at least two minor criteria each. Major criteria for a sinonasal exacerbation are 1) reported acute increase in nasal discharge or change in colour, 2) reported acute pain or sensitivity in the sinus regions and 3) mucopurulent discharge on examination. Minor criteria include reported symptoms, examination signs, doctor's decision to treat and improvement after at least 14 days. Major criteria for the otological exacerbation are 1) reported acute ear pain or sensitivity, 2) reported acute ear discharge, 3) ear discharge on examination and 4) signs of otitis media in otoscopy. Minor criteria are reported acute hearing problems, signs of acute complication, and doctor's decision to treat. Conclusion These definitions might offer a useful outcome measure for primary ciliary dyskinesia research in different settings. They should be validated in future studies and trials together with other potential outcomes, to assess their usability.

Background: Almost all patients with primary ciliary dyskinesia (PCD) have ear-nose-throat (ENT) symptoms, however, little is known about how the upper airways relate to lung disease. We aimed to study associations between upper and lower respiratory symptoms in patients with PCD. Methods: We included patients of the ENT Prospective International Cohort (EPIC-PCD) who completed the FOLLOW-PCD symptoms questionnaire at clinic visit. We studied possible associations of ENT reported symptoms with reported sputum production and shortness of breath (SOB), using logistic regression. In a subgroup with available lung function results, we used linear regression to study associations of ENT symptoms and FEV1 z-score (Global Lung Function Initiative). All analyses were adjusted for sex and age. Results: We included 422 patients (median age: 15 years, IQR 9-22; 53% males). 384 patients reported sputum production (91%), and 252 patients (60%) SOB in the past 3 months. Nasal symptoms were associated with sputum production (daily/often: OR 6.3, 95% CI 2.4-16.6; sometimes/rarely: OR 3.4; 95% CI 1.4-8.2), and SOB (daily/often: OR 2.9; 95% CI 1.4-5.9; sometimes/rarely: OR 2.4; 95% CI 1.2-4.9). Headache while bending down was associated with SOB (OR 2.4; 95% CI 1.1-5.6). We found no association between ear and lung symptoms. FEV1 was available for 273 patients (median z-score: -1.90; IQR -2.89 to -0.68) and was not associated with any reported ENT symptom. Conclusion: Reported nasal symptoms were associated with pulmonary symptoms but not with FEV1. Detailed clinical assessments are needed to understand how upper airway disease relates to lung disease in PCD. Funding: SNF PZ00P3_185923, BEAT-PCD ERS CRC

Background Sinonasal symptoms are a common feature of primary ciliary dyskinesia (PCD); however, literature about their severity and frequency, particularly during the life course, is scarce. Using baseline data from the Ear, nose and throat (ENT) Prospective International Cohort of PCD patients, we describe sinonasal disease in PCD. Methods We included participants who had a routine sinonasal examination during which they completed a symptoms questionnaire. We compared frequency of reported symptoms and examination findings among children and adults, and identified characteristics potentially associated with higher risk of sinonasal disease using ordinal regression. Results 12 centres contributed 384 participants; median age was 16 years (IQR 9–22), and 54% were male. Chronic nasal problems were the most common feature, reported by 341 (89%). More adults (33; 24%) than children (10; 4%) described hyposmia. Quality of life was moderately affected by rhinosinusitis among 136 participants with completed SNOT-22 questionnaires (median score 31; IQR 23–45). Examinations revealed nasal polyps among 51 of 345 participants (15%) and hypertrophic inferior nasal turbinates among 127 of 341 participants (37%). Facial pain was detected in 50 of 342 participants (15%). Nasal polyps, hypertrophic turbinates, deviated septum and facial pain were found more commonly in adults than children. The only characteristic associated with higher risk of sinonasal disease was age 10 years and older. Conclusions Based on our findings, regular sinonasal examinations are relevant for patients with PCD of all ages. There is a need for improved management of sinonasal disease supported by evidence-based guidelines.

Importance:Otologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about its spectrum and severity.Objective:To characterize otologic disease among participants with PCD using data from the Ear-Nose-Throat Prospective International Cohort.Design, Setting, and Participants:This cross-sectional analysis of baseline cohort data from February 2020 through July 2022 included participants from 12 specialized centers in 10 countries. Children and adults with PCD diagnoses; routine ear, nose, and throat examinations; and completed symptom questionnaires at the same visit or within 2 weeks were prospectively included.Exposures:Potential risk factors associated with increased risk of ear disease.Main Outcomes and Measures:The prevalence and characteristics of patient-reported otologic symptoms and findings from otologic examinations, including potential factors associated with increased risk of ear inflammation and hearing impairment.Results:A total of 397 individuals were eligible to participate in this study (median [range] age, 15.2 [0.2-72.4] years; 186 (47%) female). Of the included participants, 204 (51%) reported ear pain, 110 (28%) reported ear discharge, and 183 (46%) reported hearing problems. Adults reported ear pain and hearing problems more frequently when compared with children. Otitis media with effusion-usually bilateral-was the most common otoscopic finding among 121 of 384 (32%) participants. Retracted tympanic membrane and tympanic sclerosis were more commonly seen among adults. Tympanometry was performed for 216 participants and showed pathologic type B results for 114 (53%). Audiometry was performed for 273 participants and showed hearing impairment in at least 1 ear, most commonly mild. Season of visit was the strongest risk factor for problems associated with ear inflammation (autumn vs spring: odds ratio, 2.40; 95% CI, 1.51-3.81) and age 30 years and older for hearing impairment (41-50 years vs ≤10 years: odds ratio, 3.33; 95% CI, 1.12-9.91).Conclusion and Relevance:In this cross-sectional study, many people with PCD experienced ear problems, yet frequency varied, highlighting disease expression differences and possible clinical phenotypes. Understanding differences in otologic disease expression and progression during lifetime may inform clinical decisions about follow-up and medical care. Multidisciplinary PCD management should be recommended, including regular otologic assessments for all ages, even without specific complaints.

Tumours in the pituitary fossa region can be resected by endoscopic transnasal surgery using a four-hands technique. The technique, which is atraumatic, safe and minimally invasive, should be the first-line treatment for pituitary tumours and certain skull-base tumours.

Objectives:The objective of this study was twofold: to determine the prevalence of arterial and venous thromboembolic events in the Norwegian Hereditary Hemorrhagic Telangiectasia (HHT) population, and to explore potential factors linked to such events, with particular emphasis on FVIII. Methods:Patients with an HHT diagnosis attending the Otorhinolaryngology Department at Oslo University Hospital-Rikshospitalet were included consecutively between April 2021 and November 2022. We recorded the participants' medical history with an emphasis on thromboembolic events. Measurements of blood constituents, including FVIII, FIX, vWF, hemoglobin, iron, ferritin, and CRP were performed. Results:One hundred and thirty-four patients were included in the study. The total prevalence of thromboembolic events among the participants was 23.1%. FVIII levels were high (>150 IU/dL) in the majority of HHT patients (n = 84) (68.3%) and were significantly associated with thromboembolic events (p < .001), as was age. Of the patients with high FVIII levels, 28 (33%) had experienced a thromboembolic event. Furthermore, FVIII levels were measured consecutively in 51 patients and were found to fluctuate above or below 150 IU/dL in 25% of these cases. Conclusion:Thromboembolic events are highly prevalent in the Norwegian HHT population and are significantly associated with FVIII levels. FVIII levels can fluctuate, and measurements should be repeated in HHT patients to assess the risk of thromboembolic events. Level of Evidence:4.

Tumours in the pituitary fossa region can be resected by endoscopic transnasal surgery using a four-hands technique. The technique, which is atraumatic, safe and minimally invasive, should be the first-line treatment for pituitary tumours and certain skull-base tumours.

ABSTRACTImportanceOtologic disease is common among people with primary ciliary dyskinesia, yet little is known about its spectrum and severity.ObjectiveWe characterized otologic disease among participants with primary ciliary dyskinesia using data from the Ear-Nose-Throat Prospective International Cohort of PCD patients (EPIC-PCD).DesignCross-sectional analysis of baseline cohort data.SettingTwelve specialized primary ciliary dyskinesia centers in 10 countries.ParticipantsWe prospectively included children and adults with primary ciliary dyskinesia diagnoses, routine ENT examinations, and completed symptom questionnaires at the same visit or within 2 weeks.ExposuresPotential risk factors associated with increased risk of ear disease.Main outcomes and measuresWe describe the prevalence and characteristics of patient-reported otologic symptoms and findings from otologic examinations; we identify potential factors associated with increased risk of ear inflammation and hearing impairment.ResultsWe included 397 (211 males) participants with median age 15 (range 0–73). A total of 204 (51%) reported ear pain, 110 (28%) ear discharge, and 183 (46%) hearing problems. Adults reported ear pain and hearing problems more frequently when compared with children.Otitis media with effusion—usually bilateral—from otoscopy was most common among 121 (32%) of 384 participants. Retracted tympanic membrane and tympanic sclerosis were more commonly seen among adults. Tympanometry was performed on 216 participants and showed pathologic type B results for 114 (53%). Audiometry was performed on 273 participants and showed hearing impairment in at least 1 ear, most commonly mild.Season of visit was the strongest risk factor for problems related to ear inflammation (autumn compared with spring odds ratio, 95% confidence interval: 2.4, 1.5–3.8) and age 30 and older of hearing impairment (age 41–50 compared with age 10 years and younger odds ratio, 95% confidence interval: 3.3, 1.1–9.9).Conclusion and relevanceMany people with primary ciliary dyskinesia suffer from ear problems yet frequency varies, highlighting disease expression differences and possible clinical phenotypes. Understanding differences in otologic disease expression and progression during lifetime may inform clinical decisions about follow-up and medical care. We recommend multidisciplinary primary ciliary dyskinesia management includes regular otologic assessments for all ages even without specific complaints.Key PointsQuestionWhat are the characteristics of otologic disease among patients with primary ciliary dyskinesia (PCD)?FindingsBaseline data from a large multicenter cohort of patients with PCD showed frequent reports of ear pain and reduced hearing with age as the main factor associated with hearing impairment. Otitis media with effusion was the most common otoscopic finding; adults often presented with tympanic sclerosis following history of previous ear infections.MeaningSince otologic disease is an important yet underreported part of PCD’s clinical expression, we recommend otologic assessments for all age groups as part of regular clinical follow-up.

BackgroundEpistaxis is the most common symptom in patients with hereditary hemorrhagic telangiectasia (HHT), with the greatest negative impact on quality of life (QoL). Repeated intranasal submucosal bevacizumab injections (RISBI) is a relatively new treatment option for moderate or severe grades of epistaxis in HHT. However, the effect of RISBI on QoL is not fully evaluated.Study DesignProspective, non‐comparative study.Materials and MethodsPatients treated by RISBI for HHT‐associated epistaxis between June 2011 and August 2013 were prospectively invited to the present study. The end of follow‐up was October 2013. The patients were requested to answer QoL questionnaires before the first treatment, and 6‐8 weeks after the last treatment. Three levels of QoL were assessed: Overall QoL using Cantril's Self‐Anchoring Ladder; Health‐related QoL using Short Form 36 (SF‐36), and Disease‐specific QoL. Psychological distress was measured with the Hospital Anxiety and Depression scale (HADS).ResultsThirty‐three patients were treated with RISBI during the period referred to above. Twenty‐three patients completed the QoL questionnaires. The average number of treatments per patient was 2.15 ± 1.3 (Range: 1–5). The mean overall QoL improved from 6.47 ± 1.9 to 7.26 ± 1.6 (P < .05). Several dimensions measured by SF‐36 were significantly improved with a medium to strong effect size. HADS demonstrated a significant decrease in psychological distress after the last treatment.ConclusionHHT patients treated by RISBI improved in several aspects of quality of life, and psychological distress decreased. RISBI was an effective treatment option for moderate and severe grades of HHT‐associated epistaxis.Level of Evidence4 (case series).Laryngoscope, 130:E284–E288, 2020

Intranasal bevacizumab injections have been used in treating hereditary hemorrhagic telangiectasia (HHT)‐related epistaxis since 2009. It is believed to be a safe and effective treatment for a selected group of HHT patients in reducing frequency and intensity of epistaxis, with few or none adverse effects. In this case report, however, we will describe a patient who developed bilateral osteonecrosis in the knees while undergoing regular intranasal submucosal bevacizumab injections. Although osteonecrosis previously has been documented in patients receiving bevacizumab intravenously in oncologic doses, thus far it has not been reported in patients treated with intranasal submucosal injections. Laryngoscope , 128:593–596, 2018