High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia.

BACKGROUND AND PURPOSE: Hereditary haemorrhagic telangiectasia (HHT) is a genetic disease with fragile blood vessels and vascular malformations, potentially causing neurological manifestations, including stroke and cerebral abscesses. The study aimed to investigate neurological manifestations in the Danish HHT database, focusing on pulmonary arteriovenous malformations (PAVMs) as a risk factor for cerebral events. METHODS: Retrospective analysis of the Danish HHT database was conducted, cross-referencing neurological outcomes with the Danish Apoplexy Register for accuracy. Patients were stratified by HHT type. Primary outcomes included ischaemic stroke, transient ischaemic attack and cerebral haemorrhage. Secondary outcomes comprised age, age at HHT diagnosis, age at cerebral ischaemic event, and PAVM and cerebral arteriovenous malformation status. RESULTS: Six hundred and sixty-four HHT patients were included. PAVM was diagnosed in 54% of patients, with higher prevalence in HHT type 1 (70%) compared to HHT type 2 (34%) and juvenile polyposis HHT (66%). Ischaemic stroke or transient ischaemic attack occurred in 12.5%, with a higher risk associated with macroscopic PAVM. Logistic regression showed a nearly 10 times increased risk of ischaemic stroke with macroscopic PAVM. Cerebral abscesses occurred in 3.2% of patients, all with macroscopic PAVM. Incomplete PAVM closure increased cerebral abscess risk. CONCLUSION: This study provides valuable insights into the prevalence of neurological manifestations and vascular events in HHT patients. The presence of PAVM was associated with an increased risk of ischaemic stroke, highlighting the importance of early screening and intervention. The findings emphasize the need for comprehensive management strategies targeting both vascular and neurological complications in HHT patients, especially regarding secondary stroke prevention.

Pulmonary arteriovenous malformations in patients with previous brain abscess: a cross-sectional population-based study.

BACKGROUND AND PURPOSE: Pulmonary arteriovenous malformations (PAVMs) may cause recurrent brain abscess. The primary aim was to determine the prevalence of PAVM amongst survivors of brain abscess. The proportion with cardiac right-to-left shunts was also assessed post hoc. METHODS: This was a cross-sectional population-based study of adult (≥18 years) survivors of cryptogenic bacterial brain abscess in Denmark from 2007 through 2016. Patients were invited for bubble-echocardiography to detect vascular right-to-left shunting and, if abnormal, subsequent computed tomography thorax for diagnosis of PAVM. Data are presented as n/N (%) or median with interquartile range (IQR). RESULTS: Study participation was accepted by 47/157 (30%) eligible patients amongst whom two did not appear for scheduled bubble-echocardiography. The median age of participants was 54 years (IQR 45-62) and 19/57 (33%) were females compared with 59 years (IQR 48-68, p = 0.05) and 41/85 females (48%, p = 0.22) in non-participants. Bubble-echocardiography was suggestive of shunt in 10/45 (22%) participants and PAVM was subsequently confirmed by computed tomography in one patient with grade 1 shunting. The corresponding prevalence of PAVM was 2% (95% confidence interval 0.06-11.8) amongst all examined participants. Another 9/45 (20%) were diagnosed with patent in persistent foramen ovale (n = 8) or atrial septum defect (n = 1), which is comparable with the overall prevalence of 25% amongst adults in the Danish background population. CONCLUSIONS: Undiagnosed PAVM amongst adult survivors of cryptogenic bacterial brain abscess is rare but may be considered in select patients. The prevalence of cardiac right-to-left shunts amongst brain abscess patients corresponds to the prevalence in the general population.

Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study.

BACKGROUND AND AIMS: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by recurrent epistaxis, telangiectatic lesions in the skin and mucosal membranes, and arteriovenous malformations (AVMs) in various organs. In 3%-5% of patients, HHT is caused by pathogenic germline variants (PVs) in SMAD4, and these patients often have additional symptoms of juvenile polyposis syndrome and thoracic aneurysms. The phenotypic spectrum of SMAD4-associated HHT is less known, including the penetrance and severity of HHT. We aimed to investigate the phenotypic spectrum of HHT manifestations in Danish patients with PVs in SMAD4 and compare the findings with current literature. METHODS: The study is a retrospective nationwide study with all known Danish patients with PVs in SMAD4. In total, 35 patients were included. The patients were identified by collecting data from genetic laboratories, various databases and clinical genetic departments across the country. Clinical information was mainly collected from the Danish HHT-Centre at Odense University Hospital. RESULTS: Twenty-nine patients with PVs in SMAD4 (83%) were seen at the HHT-Centre. Seventy-six per cent of these fulfilled the Curaçao criteria, 86% experienced recurrent epistaxis and 83% presented with telangiectatic lesions at different anatomical localisations. Almost 60% had AVMs, mainly pulmonary and hepatic, while none was found to have cerebral AVMs. Fifteen per cent had thoracic aortic abnormalities. CONCLUSION: We present a nationwide study of one of the largest populations of patients with PVs in SMAD4 that has systematically been examined for HHT manifestations. The patients presented the full spectrum of HHT-related manifestations and the majority fulfilled the Curaçao criteria.

Clinical evaluation of antibiotic regimens in patients with surgically verified parapharyngeal abscess: a prospective observational study.

PURPOSE: We aimed to evaluate the effectiveness of different antibiotic regimens for the treatment of parapharyngeal abscess (PPA) and characterize patients, who suffered potentially preventable complications (defined as death, abscess recurrence, spread of infection, or altered antibiotic treatment because of insufficient progress). METHODS: Sixty adult patients with surgically verified PPA were prospectively enrolled at five Danish Ear-nose-throat departments. RESULTS: Surgical treatment included internal incision (100%), external incision (13%), and tonsillectomy (88%). Patients were treated with penicillin G ± metronidazole (n = 39), cefuroxime ± metronidazole (n = 16), or other antibiotics (n = 5). Compared to penicillin-treated patients, cefuroxime-treated patients were hospitalized for longer (4.5 vs 3.0 days, p = 0.007), were more frequently admitted to intensive care (56 vs 15%, p = 0.006), underwent external incision more frequently (31 vs 5%, p = 0.018), and suffered more complications (50 vs 18%, p = 0.022), including re-operation because of abscess recurrence (44 vs 3%, p < 0.001). Nine patients suffered potentially preventable complications. These patients displayed significantly higher C-reactive protein levels, received antibiotics prior to admission more frequently, underwent external incision more commonly, and were admitted to intensive care more frequently compared to other patients. CONCLUSION: The majority of patients with PPA were effectively managed by abscess incision, tonsillectomy, and penicillin G ± metronidazole. Cefuroxime-treated patients were more severely ill at time of admission and had worse outcome compared to penicillin-treated patients. We recommend penicillin G + metronidazole as standard treatment for patients with PPA, but in cases with more risk factors for potentially preventable complications, we recommend aggressive surgical and broadened antibiotic therapy, e.g. piperacillin-tazobactam.

Microbiology of parapharyngeal abscesses in adults: in search of the significant pathogens.

We aimed to describe the microbiology of parapharyngeal abscess (PPA) and point out the likely pathogens using the following principles to suggest pathogenic significance: (1) frequent recovery, (2) abundant growth, (3) growth in relative abundance to other microorganisms, (4) percentage of the isolates recovered in both absolute and relative abundance, (5) more frequent recovery in PPA pus compared with tonsillar surface and tissue. Comprehensive bacterial cultures were performed on specimens obtained from adult patients (n = 60) with surgically verified PPA, who were prospectively enrolled at five Danish ear-nose-throat departments. The prevalent isolates (in PPA pus) were unspecified anaerobes (73%), non-hemolytic streptococci (67%), Streptococcus anginosus group (SAG) (40%), Corynebacterium spp. (25%), Neisseria spp. (23%), Fusobacterium spp. (22%), Fusobacterium necrophorum (17%), Prevotella spp. (12%), and Streptococcus pyogenes (10%). The bacteria most frequently isolated in heavy (maximum) growth were unspecified anaerobes (60%), SAG (40%), F. necrophorum (23%), and Prevotella spp. (17%). The predominant microorganisms (those found in highest relative abundance) were unspecified anaerobes (53%), SAG (28%), non-hemolytic streptococci (25%), F. necrophorum (15%), S. pyogenes (10%), and Prevotella spp. (10%). Four potential pathogens were found in both heavy growth and highest relative abundance in at least 50% of cases: F. necrophorum, Prevotella spp., SAG, and S. pyogenes. SAG, Prevotella spp., F. necrophorum, S. pyogenes, and Bacteroides spp. were recovered with the same or higher frequency from PPA pus compared with tonsillar tissue and surface. Our findings suggest that SAG, F. necrophorum, Prevotella, and S. pyogenes are significant pathogens in PPA development.

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.

DESCRIPTION: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of vascular malformations (VMs). These result in chronic bleeding, acute hemorrhage, and complications from shunting through VMs. The goal of the Second International HHT Guidelines process was to develop evidence-based consensus guidelines for the management and prevention of HHT-related symptoms and complications. METHODS: The guidelines were developed using the AGREE II (Appraisal of Guidelines for Research and Evaluation II) framework and GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology. The guidelines expert panel included expert physicians (clinical and genetic) in HHT from 15 countries, guidelines methodologists, health care workers, health care administrators, patient advocacy representatives, and persons with HHT. During the preconference process, the expert panel generated clinically relevant questions in 6 priority topic areas. A systematic literature search was done in June 2019, and articles meeting a priori criteria were included to generate evidence tables, which were used as the basis for recommendation development. The expert panel subsequently convened during a guidelines conference to conduct a structured consensus process, during which recommendations reaching at least 80% consensus were discussed and approved. RECOMMENDATIONS: The expert panel generated and approved 6 new recommendations for each of the following 6 priority topic areas: epistaxis, gastrointestinal bleeding, anemia and iron deficiency, liver VMs, pediatric care, and pregnancy and delivery (36 total). The recommendations highlight new evidence in existing topics from the first International HHT Guidelines and provide guidance in 3 new areas: anemia, pediatrics, and pregnancy and delivery. These recommendations should facilitate implementation of key components of HHT care into clinical practice.

Real-life assessment of chronic rhinosinusitis patients using mobile technology: The mySinusitisCoach project by EUFOREA.

BACKGROUND: Chronic rhinosinusitis (CRS) is a chronic inflammatory disease associated with a substantial personal and socioeconomic burden. Monitoring of patient-reported outcomes by mobile technology offers the possibility to better understand real-life burden of CRS. METHODS: This study reports on the cross-sectional evaluation of data of 626 users of mySinusitisCoach (mSC), a mobile application for CRS patients. Patient characteristics of mSC users were analysed as well as the level of disease control based on VAS global rhinosinusitis symptom score and adapted EPOS criteria. RESULTS: The mSC cohort represents a heterogeneous group of CRS patients with a diverse pattern of major symptoms. Approximately half of patients reported nasal polyps. 47.3% of all CRS patients were uncontrolled based on evaluation of VAS global rhinosinusitis symptom score compared to 40.9% based on adapted EPOS criteria. The impact of CRS on sleep quality and daily life activities was significantly higher in uncontrolled versus well-controlled patients. Half of patients had a history of FESS (functional endoscopic sinus surgery) and reported lower symptom severity compared to patients without a history of FESS, except for patients with a history of more than 3 procedures. Patients with a history of FESS reported higher VAS levels for impaired smell. CONCLUSION: Real-life data confirm the high disease burden in uncontrolled CRS patients, clearly impacting quality of life. Sinus surgery improves patient-reported outcomes, but not in patients with a history of more than 3 procedures. Mobile technology opens a new era of real-life monitoring, supporting the evolution of care towards precision medicine.

Patient-recorded benefit from nasal closure in a Danish cohort of patients with hereditary haemorrhagic telangiectasia.

BACKGROUND: Nasal closure, also known as the modified Young's procedure was introduced in Denmark in 2008, as a surgical solution to severe epistaxis in patients with hereditary haemorrhagic telangiectasia (HHT). The objective of this study was to report the overall satisfaction of the procedure from a patient's point of view as well as the occurrence of complications. METHODS: All the HHT patients who underwent nasal closure from 2008 to 2018 were included in the study. The patients were evaluated for postoperative complications and subjective outcome using Glasgow Benefit Inventory (GBI). RESULTS: Ten patients were included in the study and were observed for a mean of 64 months. None of the patients was completely free of complications, and reversal was requested in a single case. Haemoglobin levels rose with an average of 2.8 g/dl. The average GBI score after surgery was 38.05. Nine of ten patients would recommend nasal closure to fellow HHT patients. CONCLUSION: Nasal closure is highly recommended among patients, but due to the rate of postoperative complications, the procedure should be reserved for a carefully selected group of HHT patients.

Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia.

UNLABELLED: Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is predominantly caused by mutations in ENG and ACVRL1, which are part of the transforming growth factor beta (TGF-ß) signaling pathway. HHT is characterized by the presence of mucocutaneous telangiectases and arteriovenous malformations in visceral organs, primarily the lungs, brain and liver. The most common symptom in HHT is epistaxis originating from nasal telangiectasia, which can be difficult to prevent and can lead to severe anemia. The clinical manifestations of HHT are extremely variable, even within family members, and the exact mechanism of how endoglin and ALK1 haploinsufficiency leads to HHT manifestations remains to be identified. OBJECTIVES: The purpose of this study was to detect significantly differentially regulated genes in HHT, and try to elucidate the pathways and regulatory mechanisms occurring in the affected tissue of HHT patients, in order to further characterize this disorder and hypothesize on how telangiectases develop. By microarray technology (Agilent G3 Human GE 8x60), we performed global gene expression profiling of mRNA transcripts from HHT nasal telangiectasial (n = 40) and non-telangiectasial (n = 40) tissue using a paired design. Comparing HHT telangiectasial and non-telangiectasial tissue, significantly differentially expressed genes were detected using a paired t-test. Gene set analysis was performed using GSA-SNP. In the group of ENG mutation carriers, we detected 67 differentially expressed mRNAs, of which 62 were down-regulated in the telangiectasial tissue. Gene set analysis identified the gene ontology (GO) terms vasculogenesis, TGF-ß signaling, and Wnt signaling as differentially expressed in HHT1. Altered Wnt signaling might be related to HHT pathogenesis and a greater understanding of this may lead to the discovery of therapeutic targets in HHT.

Surfactant proteins A, B, C and D in the human nasal airway: associated with mucosal glands and ciliated epithelium but absent in fluid-phase secretions and mucus.

AIMS: To investigate the presence of surfactant protein (SP) A, B, C and D in nasal airways and to determine whether the proteins exert their main functions in nasal secretions or in the deeper layers of the nasal mucosa. METHODS: Volunteers were recruited from the Department of ENT Head and Neck Surgery, Odense University Hospital, Denmark. The study included 39 subjects. Nasal mucosal biopsies were analyzed by immunohistochemistry, and bronchoalveolar and nasal lavages, nasal brush biopsies and nasal mucus were analyzed for SP-A, -B, -C and -D by SDS-PAGE and Western blotting. The presence of SP-A and SP-D in the first three samplings were also analyzed by enzyme-linked immunosorbent assay. RESULTS: In nasal mucosal biopsies, SP-A, -B, -C and -D were all demonstrated in the serous acini of the submucosal glands and in the surface epithelium. SP-D was detected in nasal brush biopsies, whereas the other SPs were absent. Moreover, SP-A, -B, -C and -D were absent in nasal lavage and mucus. CONCLUSION: SP-A, -B, -C and -D exert their protective effect in the ductal epithelium of the submucosal glands rather than in nasal secretions and mucus. Further studies are required to clarify the functions of these proteins in nasal secretory pathways for understanding upper airway diseases.

The Otitis Media-6 questionnaire: psychometric properties with emphasis on factor structure and interpretability.

BACKGROUND: The Otitis Media-6 questionnaire (OM-6) is the most frequently used instrument to measure health related quality of life in children with otitis media. The main objectives of this study are 1) to translate and cross-culturally adapt the OM-6 into Danish, and 2) to assess important psychometric properties including structural validity and interpretability of the OM-6 in a Danish population of children suffering from otitis media. METHODS: The OM-6 was translated and cross-culturally adapted according to international guidelines. A longitudinal validation study enrolled 491 children and their families, and the measurement properties of the OM-6 were evaluated using the Cosmin taxonomy. The properties assessed were construct and structural validity (confirmatory factor analysis) including internal consistency, reproducibility (test-retest reliability and smallest detectable change), responsiveness and interpretability. RESULTS: A total of 435 children were eligible to participate in the study. Analyses of structural validity and internal consistency indicated that parent appraisal of hearing and speech problems may be problematic. Both scales showed similarly good test-retest reliability and construct validity, were able to discriminate between diagnostic subgroups and responsive to change. Cut-off values of 16.7 and 30.0 were found to represent minimal important change for the patients. CONCLUSIONS: The Danish version of the OM-6 is a reliable, valid, responsive and interpretable questionnaire to measure quality of life in children with otitis media. This study sheds light on possible weaknesses of the instrument that needs to be acknowledged in the utilization of the instrument. However, despite these issues our results support the continuing use of OM-6 as a 1-factor functional health scale with a separate global health rating. Furthermore, indications of values representing minimal important change as perceived by the respondent are presented.

Manifestations of hepatic vascular malformations in hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia is a genetic disease, causing abnormal formations of blood vessels in skin, mucus membranes, lungs, liver, and brain. In the liver, the disease results in shunting of blood, bypassing the capillary bed. Recent studies have shown that the prevalence of liver shunts are more frequent than previously suggested. The patients present with symptoms related to high-output cardiac failure causing dyspnoea and oedema. Liver shunts can be shown using CT-scans and ultrasonography. The only curable treatment is a liver transplant; however, it is the last treatment option, as argued in this review.

The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function.

BACKGROUND: Patients with the rare disease; Hereditary haemorrhagic telangiectasia (HHT) often bleed from telangiectatic lesions in mucosal surfaces. Studies suggest that impaired platelet function may also play a role in their bleeding tendency. The aim of the present study was to investigate whether HHT-patients with epistaxis have impaired platelet function. METHOD: We conducted a case-control study based on a sample size calculation and included 22 HHT-patients (inclusion criteria: epistaxis severity score ≥ 4, no intake of medicine affecting platelet function the last 5 days, HHT-type 1 or 2, age ≥ 18 years) and 20 controls. We assessed the platelet function with standard haemostasis parameters, flow cytometry (platelet function and micro aggregation), rotational thromboelastometry and Platelet Function Analyzer 200. RESULTS: We found no significant difference in mean platelet volume and immature platelet fraction and no difference in platelet activation as measured by exposure of CD62P, CD63P and PAC1 binding. Nor did we find a significant difference in platelet aggregation response in HHT-patients compared with the control group for all agonists (thrombin receptor activating peptide, adenosine diphosphate and collagen-related peptide). The PFA-200 analysis was without difference between the two groups and thromboelastometry showed no impairment of global haemostasis. CONCLUSION: Reduced platelet function is unlikely to contribute to the frequent and long bleeding episodes that HHT-patients suffer from. We propose that further studies should focus on whether patients with HHT have hypercoagulability.

The multidisciplinary approach to eosinophilia.

Eosinophilic granulocytes are normally present in low numbers in the bloodstream. Patients with an increased number of eosinophilic granulocytes in the differential count (eosinophilia) are common and can pose a clinical challenge because conditions with eosinophilia occur in all medical specialties. The diagnostic approach must be guided by a thorough medical history, supported by specific tests to guide individualized treatment. Neoplastic (primary) eosinophilia is identified by one of several unique acquired genetic causes. In contrast, reactive (secondary) eosinophilia is associated with a cytokine stimulus in a specific disease, while idiopathic eosinophilia is a diagnosis by exclusion. Rational treatment is disease-directed in secondary cases and has paved the way for targeted treatment against the driver in primary eosinophilia, whereas idiopathic cases are treated as needed by principles in eosinophilia originating from clonal drivers. The vast majority of patients are diagnosed with secondary eosinophilia and are managed by the relevant specialty-e.g., rheumatology, allergy, dermatology, gastroenterology, pulmonary medicine, hematology, or infectious disease. The overlap in symptoms and the risk of irreversible organ involvement in eosinophilia, irrespective of the cause, warrants that patients without a diagnostic clarification or who do not respond to adequate treatment should be referred to a multidisciplinary function anchored in a hematology department for evaluation. This review presents the pathophysiology, manifestations, differential diagnosis, diagnostic workup, and management of (adult) patients with eosinophilia. The purpose is to place eosinophilia in a clinical context, and therefore justify and inspire the establishment of a multidisciplinary team of experts from diagnostic and clinical specialties at the regional level to support the second opinion. The target patient population requires highly specialized laboratory analysis and therapy and occasionally has severe eosinophil-induced organ dysfunction. An added value of a centralized, clinical function is to serve as a platform for education and research to further improve the management of patients with eosinophilia. Primary and idiopathic eosinophilia are key topics in the review, which also address current research and discusses outstanding issues in the field.

Chronic Rhinosinusitis Outcome Registry (CHRINOSOR): Establishment of an International Outcome Registry Driven by mHealth Technology.

BACKGROUND: Real-world evidence (RWE) is a valuable instrument to better understand the patient journey and effectiveness of therapies. RWE on the prevalence of uncontrolled chronic rhinosinusitis (CRS) and CRS natural course of disease across Europe is scarce. In addition, there is limited RWE that enables comparison of the effectiveness of marketed therapies including topical or systemic corticosteroids, sinus surgery, or biologics. OBJECTIVE: To establish an international CHRonic rhINOSinusitis Outcome Registry (CHRINOSOR) based on real-world data collection enabled by mobile health technology. METHODOLOGY: A digital platform, Galenus Health, supporting patients and physicians in the management of chronic respiratory diseases, is used to collect data on patient profile, disease history, patient outcomes, and a set of relevant clinical outcomes. Adult patients with a diagnosis of CRS are eligible for inclusion. RESULTS: A collaborative scientific network of 17 university ear-nose-throat (ENT) clinics from 10 European countries has been established with the aim to collect real-world data in a longitudinal and standardized manner. The Galenus Health digital platform is currently being implemented in these ENT clinics taking into account legal, privacy, and data security aspects. Up to 300 patients have already been included. CONCLUSIONS: CHRINOSOR is a collaborative effort that aims at improving our understanding of CRS, its comorbidities, and the effectiveness of its treatments. Ultimately, these insights will guide us as scientific community to develop future care pathways informed by RWE.

Chronic rhinosinusitis and occupational risk factors among 20- to 75-year-old Danes-A GA(2) LEN-based study.

BACKGROUND: Very little is known about occupational risk factors for chronic rhinosinusitis (CRS). The aim of this study was to evaluate occupational and other potential risk factors for CRS in a Danish population. METHODS: A cross sectional survey study among 4,554 Danes aged 20-75 years evaluated self-reported symptoms of CRS, asthma, and nasal allergy, along with information on smoking habits and occupation. RESULTS: A total of 3,099 returned completed questionnaires (response rate 68.1%). The overall CRS prevalence was 7.8% with no significant differences related to age or gender. Risk ratio estimates revealed an increased risk of CRS among female blue collar workers compared to female white collar workers. Among men the effect of occupation depended on smoking status. Occupational exposure to gasses, fumes, dust, or smoke increased the overall risk of CRS. CRS was reported approximately four times as often in subjects with asthma and in subjects with nasal allergy. Current smoking doubled the CRS prevalence. CONCLUSIONS: CRS prevalence was affected by occupation (blue vs. white collar), but the observed effect depended on gender and smoking status. Exposure to airway irritants (occupational or smoking) increased the CRS prevalence. Studies on larger cohorts are needed to fully assess these tendencies, for example, by more extensive use of Job Exposure Matrix models.

[Impacted battery in the nose of a four-year-old girl].

In this case report, it was suspected that a four-year-old girl had an impacted toy in her nose. Initially, she was refused consultation due to a COVID-19 positive parent. Three days later she presented with nasal secretion and facial oedema. At the hospital, an examination revealed an impacted battery and consequent necrosis of nasal structures. The battery was removed in general anesthesia. Afterwards, the girl made fine recovery but developed a permanent septal perforation. Frequent alterations in COVID-19 guidelines challenge doctors to distinguish conditions crucial for evaluation. Batteries are uncommon for nasal impaction but may lead to severe morbidity if left undiscovered.

Skin and mucosal telangiectatic lesions in hereditary hemorrhagic telangiectasia patients.

BACKGROUND: The diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT) include the presence of telangiectatic lesions in common sites (nose, fingers, oral cavity, and lips). Telangiectatic lesions are described as red spots in the skin, but this description is inadequate. Few studies have investigated the characteristics of telangiectatic lesions in HHT, and we aimed to describe the distribution and morphology of telangiectatic lesions in HHT patients. METHODS: We reviewed the telangiectatic lesions in 34 adult HHT patients seen at our HHT center. Photo documentation was used to describe the morphology and distribution of the lesions. RESULTS: The telangiectatic lesions in both HHT1 and HHT2 patients were predominantly round and either flat or slightly elevated. However, elongated flat lesions and larger round, elevated lesions were also observed. Patients with HHT1 had more lesions in the mucosa (tongue and oral cavity) compared with HHT2 patients. There was no difference between HHT1 and HHT2 patients in the total number of lesions in the skin and mucosa. CONCLUSIONS: The typical round, flat telangiectatic lesion is the most common lesion in HHT, but it is very often accompanied by elevated or elongated lesions. The total number of lesions did not vary between gender, but women had significantly more lesions in the mucosa (p = 0.027). The presentation of telangiectatic lesions may vary a little between HHT1 and HHT2 patients but not in such a way that allows the morphology and location of the lesions to predict the HHT subtype.

A retrospective cohort study on European Reference Network for Rare Vascular Diseases 5 outcome measures for Hereditary Haemorrhagic Telangiectasia in Denmark.

BACKGROUND: Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by several clinical symptoms including epistaxis, arteriovenous malformations (AVM), and telangiectasia. In 2018, European Reference Network for Rare Vascular Diseases (VASCERN) recommended five outcome measures for HHT-patients to guide health care providers, some with limited experience in treating HHT, and thereby maximizing the number of HHT-patients receiving good care. The outcome measures cover the following aspects: (1) 90% of the patients should receive a pulmonary AVM (PAVM) screening; (2) 90% of the patients should receive written advice on nosebleed; (3) 70% should be assessed for iron deficiency; (4) 100% of the patients should receive written advice on antibiotic (AB) prophylaxis prior to dental and surgical procedures, and (5) 100% of relevant patients should receive written advice on pregnancy. We have introduced the outcome measures as Benchmarks in our HHT-centre and wanted to evaluate the extend of implementation we have achieved. We constantly struggle to secure the best possible treatment of our HHT-patients. METHODS: The study was a non-interventional retrospective study. Data was collected manually from patient records and from the Danish HHT-database. RESULTS: A total of 180 HHT-patients were included, all diagnosed in the period from January 1st, 2016, to December 31st, 2020. All patients were screened for PAVM. We could confirm that 66% of patients who had epistaxis received thoroughly advice. Assessment for iron deficiency was performed in 80% of the adult patients. Thoroughly advice on AB prophylaxis was documented in 75%. Thoroughly advice on pregnancy was documented in 80% of female patients 15-45 years of age. There were no significant differences over time for any of the outcome measures. CONCLUSIONS: The Danish HHT-centre reached the target threshold for outcome measures 1 and 3. It could not be documented that the target thresholds for outcome measures 2, 4, and 5 were achieved. As information and education are a very important part of HHT care, focus on and documentation that all patients receive the relevant advice must be a priority in order to ensure best care.