scholarly journals European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Omer F. Eker ◽  
Edoardo Boccardi ◽  
Ulrich Sure ◽  
Maneesh C. Patel ◽  
Saverio Alicante ◽  
...  
Keyword(s):  
Vascular Diseases ◽  
Position Statement ◽  
Reference Network ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
European Reference Network ◽  
Adults And Children

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

2021 ◽  
Author(s):  
Troels Hvelplund ◽  
Bibi Lange ◽  
Susanne Djernes Bird ◽  
Malene Korsholm ◽  
Anette Kjeldsen
Keyword(s):  
Iron Deficiency ◽  
Outcome Measures ◽  
Health Care Providers ◽  
Clinical Symptoms ◽  
Vascular Diseases ◽  
Reference Network ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Care Providers ◽  
Autosomal Dominant Disorder ◽  
European Reference Network

Abstract 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. All data was collected from medical journals 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 antibiotic 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. We could not document reaching the target thresholds for outcome measures 2, 4, and 5. As information and education is a very important part of HHT care, we will focus on and document that all patients receive the relevant advice and as part of our care, we will in the near future implement an electronic solution with advice for HHT patients.

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

2022 ◽  
Vol 17 (1) ◽  
Author(s):  
Troels Hvelplund ◽  
Bibi Lange ◽  
Susanne Djernes Bird ◽  
Malene Korsholm ◽  
Anette Drøhse Kjeldsen
Keyword(s):  
Iron Deficiency ◽  
Outcome Measures ◽  
Health Care Providers ◽  
Clinical Symptoms ◽  
Vascular Diseases ◽  
Reference Network ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Care Providers ◽  
Autosomal Dominant Disorder ◽  
European Reference Network

Abstract 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.

scholarly journals eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Alessia Paglialonga ◽  
Raffaella Gaetano ◽  
Leema Robert ◽  
Marine Hurard ◽  
Luisa Maria Botella ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Working Group ◽  
Vascular Diseases ◽  
Mobile App ◽  
Reference Network ◽  
Training And Education ◽  
Digital Platforms ◽  
Patient Organizations ◽  
European Reference Network ◽  
Strategic Assets

Abstract Background The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare Provider members) coming from 11 countries and more than 70 patient organizations from 16 countries. The eHealth Working Group (WG) of VASCERN was set up to develop practical, patient-centred solutions and strategies for effective use of eHealth tools to answer the needs of patients with multisystemic vascular rare diseases. The eHealth WG Following the identified patients’ needs and following the guiding principles of collaboration and patient-centredness, the eHealth WG was created with the following aims: to develop a mobile app to help patients find expert centres and patient organizations, and to develop resources (Pills of Knowledge, PoK) for training and education via digital platforms (eLearning). The mobile app includes, to date, functionalities that allow users to find expert centres and patient organizations across Europe in the area of rare multisystemic vascular diseases. Discussed app developments include personalized digital patient passports, educational material, emergency management guidelines and remote consultations. Regarding training and education, a variety of PoK have been developed. The PoK cover several topics, target several user groups, and are delivered in various formats so that they are easy-to-use, easy-to-understand, informative, and viable for delivery and sharing through digital platforms (eLearning) including, e.g., the VASCERN YouTube™ channel. Conclusion Overall, the work carried out by the eHealth WG of VASCERN can be seen as a pilot experience that may serve as a basis to for collaborative development of patient-centred eHealth tools that answer the needs of patients with various rare diseases, not limited to rare multisystemic vascular diseases. By expanding the multidisciplinary approach here described, clinical and research networks can take advantage of eHealth services and use them as strategic assets in achieving the ultimate goal of ensuring equity of access to prevention programs, timely and accurate diagnosis and specialized care for patients with rare diseases throughout Europe.

Hereditary haemorrhagic telangiectasia: development of a regional life-course collaborative clinical care pathway

2021 ◽  
pp. 1-9
Author(s):  
Emily Anderson ◽  
Richard Green ◽  
Andrew Swift ◽  
Malcolm G Semple
Keyword(s):  
Best Practice ◽  
Care Pathway ◽  
Genetic Disorder ◽  
Clinical Care ◽  
Quality Care ◽  
Reference Network ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Coordinated Care ◽  
Multiple Organs ◽  
European Reference Network

Hereditary haemorrhagic telangiectasia is a rare, genetic disorder that can present at any age. It is characterised by epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations, which can affect multiple organs. Early diagnosis and management reduces the morbidity and mortality associated with the disease. There is a well-established hereditary haemorrhagic telangiectasia clinic in London, and excellent links across Europe via the European Reference Network. However, local coordinated care for patients with hereditary haemorrhagic telangiectasia across the UK can be variable and often absent for children and young people. Some patients travel long distances to receive care in London, while others are referred to local clinicians or lost to follow up entirely. This article presents the experience to date from two regional UK centres (Liverpool and Dundee) where care for patients with hereditary haemorrhagic telangiectasia is being coordinated and streamlined. While there is still a lot to learn, this article highlights some of the successes and challenges identified so far, with suggestions for how these could be addressed. Collaborative regional networks such as these can facilitate the sharing of best practice and ensure that all patients with hereditary haemorrhagic telangiectasia are able to access safe, high-quality care.

scholarly journals Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Lucas H. P. Bernts ◽  
David E. J. Jones ◽  
Marleen M. Kaatee ◽  
Ansgar W. Lohse ◽  
Christoph Schramm ◽  
...  
Keyword(s):  
Access To Care ◽  
Liver Diseases ◽  
Position Statement ◽  
Reference Network ◽  
European Reference Network

scholarly journals European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Ingrid M. B. H. van de Laar ◽  
Eloisa Arbustini ◽  
Bart Loeys ◽  
Erik Björck ◽  
Lise Murphy ◽  
...  
Keyword(s):  
Smooth Muscle ◽  
Health Care Professionals ◽  
Consensus Statement ◽  
Vascular Diseases ◽  
Aortic Disease ◽  
Current Data ◽  
Reference Network ◽  
Multicenter Studies ◽  
Pathogenic Variants ◽  
European Reference Network

AbstractThe ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic aneurysm and/or dissection is the main clinical manifestation, a variety of occlusive vascular disease and extravascular manifestations occur in ACTA2-related vasculopathy. Current data suggest possible mutation-specific manifestations of vascular and extra-aortic traits.Despite its relatively high prevalence, comprehensive recommendations on the care of patients and families with pathogenic variants in ACTA2 have not yet been established. We aimed to develop a consensus document to provide medical guidance for health care professionals involved in the diagnosis and treatment of patients and relatives with pathogenic variants in ACTA2.The HTAD Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN) convened to review current literature and discuss expert opinions on clinical management of ACTA2 related vasculopathy. This consensus statement summarizes our recommendations on diagnosis, monitoring, treatment, pregnancy, genetic counselling and testing in patients with ACTA2-related vasculopathy. However, there is a clear need for additional prospective multicenter studies to further define proper guidelines.

Sign in / Sign up

Export Citation Format

Share Document