European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)

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.

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

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-02160-1 ◽

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.

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

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01386-9 ◽

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

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

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01604-4 ◽

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.

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

British Journal of Hospital Medicine ◽

10.12968/hmed.2020.0537 ◽

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.

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

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-019-1186-2 ◽

2019 ◽

Vol 14 (1) ◽

Cited By ~ 4

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.

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Educational aspects of rare and orphan lung diseases

Respiratory Research ◽

10.1186/s12931-021-01676-1 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Tiago M. Alfaro ◽

Marlies S. Wijsenbeek ◽

Pippa Powell ◽

Daiana Stolz ◽

John R. Hurst ◽

...

Keyword(s):

Lung Diseases ◽

Healthcare Professionals ◽

Treatment Options ◽

Delayed Diagnosis ◽

Reference Network ◽

Delay In Diagnosis ◽

Positive Effects ◽

European Reference Network ◽

Patient Representatives ◽

Rare Lung Diseases

AbstractPeople with rare lung diseases often suffer the burden of delayed diagnosis, limited treatment options, and difficulties in finding expert physicians. One of the reasons for the delay in diagnosis is the limited training for healthcare practitioners on rare diseases. This review explores the main concerns and needs for education on rare lung diseases from the perspectives of both patients and professionals. Despite the increasing interest in rare lung disorders and some recent breakthrough developments on the management of several diseases, healthcare professionals, including general practitioners and hospital workers, receive little education on this topic. Nonetheless, many healthcare professionals show much interest in receiving further training, especially on diagnosis. Patients and families want easier access to high-quality education materials to help them manage their own disease. Well-educated patients are better equipped to deal with chronic diseases, but patient education can be challenging as patients’ individual health issues, and diverse backgrounds can create significant barriers. Raising more awareness for rare lung diseases and further development of patient-centred international expert networks like the European Reference Network on Rare Lung Diseases (ERN-LUNG), which includes both experts and patient representatives, are essential for improving care and education on rare lung diseases. Initiatives such as the Rare Disease Day, have been successful in increasing awareness for rare conditions. The development of online tools for accessing information has had positive effects and should be further supported and extended in the future.

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A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies

Epilepsia Open ◽

10.1002/epi4.12459 ◽

2020 ◽

Author(s):

Tobias Baumgartner ◽

Mar Carreño ◽

Rodrigo Rocamora ◽

Francesca Bisulli ◽

Antonella Boni ◽

...

Keyword(s):

Clinical Practice ◽

Reference Network ◽

European Reference Network

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Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

Familial Cancer ◽

10.1007/s10689-018-0110-6 ◽

2018 ◽

Vol 18 (2) ◽

pp. 281-284 ◽

Cited By ~ 2

Author(s):

Janet R. Vos ◽

◽

Lisette Giepmans ◽

Claas Röhl ◽

Nicoline Geverink ◽

...

Keyword(s):

Hereditary Cancer ◽

Reference Network ◽

European Reference Network ◽

Genetic Tumour

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Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe

Frontiers in Neurology ◽

10.3389/fneur.2021.646841 ◽

2021 ◽

Vol 12 ◽

Author(s):

Marenka Smit ◽

Alberto Albanese ◽

Monika Benson ◽

Mark J. Edwards ◽

Holm Graessner ◽

...

Keyword(s):

Information Exchange ◽

Wide Spectrum ◽

Neurological Diseases ◽

Evidence Base ◽

Diagnostic Process ◽

Reference Network ◽

Novel Treatments ◽

European Reference Network ◽

Specialized Care ◽

The Central Nervous System

Improved care for people with dystonia presents a number of challenges. Major gaps in knowledge exist with regard to how to optimize the diagnostic process, how to leverage discoveries in pathophysiology into biomarkers, and how to develop an evidence base for current and novel treatments. These challenges are made greater by the realization of the wide spectrum of symptoms and difficulties faced by people with dystonia, which go well-beyond motor symptoms. A network of clinicians, scientists, and patients could provide resources to facilitate information exchange at different levels, share mutual experiences, and support each other's innovative projects. In the past, collaborative initiatives have been launched, including the American Dystonia Coalition, the European Cooperation in Science and Technology (COST—which however only existed for a limited time), and the Dutch DystonieNet project. The European Reference Network on Rare Neurological Diseases includes dystonia among other rare conditions affecting the central nervous system in a dedicated stream. Currently, we aim to broaden the scope of these initiatives to a comprehensive European level by further expanding the DystoniaNet network, in close collaboration with the ERN-RND. In line with the ERN-RND, the mission of DystoniaNet Europe is to improve care and quality of life for people with dystonia by, among other endeavors, facilitating access to specialized care, overcoming the disparity in education of medical professionals, and serving as a solid platform to foster international clinical and research collaborations. In this review, both professionals within the dystonia field and patients and caregivers representing Dystonia Europe highlight important unsolved issues and promising new strategies and the role that a European network can play in activating them.

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