List of clinical guidelines and expert consensus statements


VASCERN and its Rare Diseases Working Groups follow (and have generated) existing (national and international) guidelines: see sections below.

VASCERN Action Plan includes the selection and development of new guidelines and expert consensus statements, in cooperation with the Patient Group.

  • Diagnostic criteria for hereditary hemorrhagic telangiectasia (RenduOslerWeber syndrome)-Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Am J Med Genet 2000 ( >990 citations).
  • Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.Buscarini E, Plauchu H, Garcia Tsao G, White RI Jr, Sabbà C, Miller F, Saurin JC, Pelage JP, Lesca G, Marion MJ, Perna A, Faughnan ME. Liver Int. 2006 (>100 citations).
  • HHT Foundation International – Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K,Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R; J Med Genet. 2011(>350 citations)
  • European Association for Liver Studies – Clinical Practice guidelines: Vascular diseases of the liver. Garcia-Pagan, Buscarini E  Janssen, Leebeek F, Plessier, Rubbia Brandt, Senzolo, Shouten, Tripodi. J Hepatol 2016. (already cited)
  • Claire SHOVLIN (UK), Saverio ALICANTE (Italy), Luisa BOTELLA (Spain), Nicky COOTE (UK), Claudia CROCIONE (Italy), Freya DROEGE (Germany), Didier ERASME (France), Anette KJELDSEN (Denmark), David LEFROY (UK), Gennaro Mariano LENATO (Italy), Hans-Jurgen MAGER (The Netherlands), Marco POST (The Netherlands), Carlo SABBÀ (Italy), Patrizia SUPPRESSA (Italy) ; Ulrich SURE (Germany), Pernille TØRRING (Denmark), Sara UGOLINI (Italy), Elisabetta BUSCARINI (Italy)*, and Sophie DUPUIS-GIROD (France)* Hereditary Haemorrhagic Telangiectasia. Orphanet Encyclopedia for Professionals

Planned Guidelines

VASCERN HHT Position Statement on cerebral AVM screening in HHT

More information on HHT-WG plans regarding Quality & Safety of care here

  1. 2017 ESVS Guidelines on the Management of Descending Thoracic Aorta Diseases
  2. Goldstein SA, Evangelista A, Abbara S, Arai A, Asch FM, Badano LP, Bolen MA,Connolly HM, Cuéllar-Calàbria H, Czerny M, Devereux RB, Erbel RA, Fattori R,Isselbacher EM, Lindsay JM, McCulloch M, Michelena HI, Nienaber CA, Oh JK, Pepi M, Taylor AJ, Weinsaft JW, Zamorano JL, Dietz H, Eagle K, Elefteriades J, Jondeau G, Rousseau H, Schepens M. Multimodality imaging of diseases of the thoracic aorta in adults: from the American Society of Echocardiography and the European Association of Cardiovascular Imaging: endorsed by the Society of Cardiovascular Computed Tomography and Society for Cardiovascular Magnetic Resonance. J Am Soc Echocardiogr. 2015 Feb;28(2):119-82.
  3. Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A et all. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014 Nov 1; 35(41):2873-926.
  4. Vahanian A, Alfieri O, Andreotti F, Antunes MJ, Baron-Esquivias G, Baumgartner H, Borger MA, Carrel TP, De Bonis M, Evangelista A, Falk V, Iung B, Lancellotti P, Pierard L, Price S, Schafers HJ, Schuler G, Stepinska J, Swedberg K, Takkenberg J, Von Oppell UO, Windecker S, Zamorano JL, Zembala M. [Guidelines on the management of valvular heart disease (version 2012). The Joint Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology (ESC) and the European Association for Cardio-Thoracic Surgery (EACTS)]. Eur Heart J (2012) 33, 2451–2496
  5.   Grabenwöger M, Alfonso F, Bachet J, Bonser R, Czerny M, Eggebrecht H, Evangelista A, Fattori R, Jakob H, Lönn L, Nienaber CA, Rocchi G, Rousseau H,Thompson M, Weigang E, Erbel R; European Association for Cardio-Thoracic Surgery EACTS); European Society of Cardiology (ESC); European Association of Percutaneous Cardiovascular Interventions (EAPCI). Thoracic Endovascular Aortic Repair (TEVAR) for the treatment of aortic diseases: a position statement from the European Association for Cardio-Thoracic Surgery (EACTS) and the European Society of Cardiology (ESC), in collaboration with the European Association of Percutaneous Cardiovascular Interventions (EAPCI). Eur J Cardiothorac Surg. 2012 Jul;42(1):17-24.

Guidelines for the diagnosis of Marfan syndrome

Loeys, B.L. et al., 2010. The revised Ghent nosology for the Marfan syndrome. J Med Genet, 47(7), pp.476–485.

Guidelines for genetic testing in HTAD

Arslan-Kirchner, M. et al., 2015. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches. European Journal of Human Genetics.

Renard, M. et al., 2018. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. JAC, 72(6), pp.605–615.

Several International Guidelines for the diagnosis and management of aortic disease:

Evangelista, A. et al., 2010. Echocardiography in aortic diseases: EAE recommendations for clinical practice. European Journal of Echocardiography, 11(8), pp.645–658.

Erbel, R. et al., 2014. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). European Heart Journal, 35(41), pp.2873–2926.

Hiratzka, L.F. et al., 2010. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation, 121(13), pp.e266–369.

Guidelines on management of aortic disease in pregnancy

European Society of Gynecology (ESG) et al., 2011. ESC Guidelines on the management of cardiovascular diseases during pregnancy: the Task Force on the Management of Cardiovascular Diseases during Pregnancy of the European Society of Cardiology (ESC). European Heart Journal, 32(24), pp.3147–3197.

Wanga, S. et al., 2016. Pregnancy and Thoracic Aortic Disease: Managing the Risks. The Canadian journal of cardiology, 32(1), pp.78–85.

Guidelines for the screening and management of patients with pathogenic ACTA2 variants 

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. van de Laar IMBH, Arbustini E, Loeys B, Björck E, Murphy L, Groenink M, Kempers M, Timmermans J, Roos-Hesselink J, Benke K, Pepe G, Mulder B, Szabolcs Z, Teixidó-Turà G, Robert L, Emmanuel Y, Evangelista A, Pini A, von Kodolitsch Y, Jondeau G, De Backer J.Orphanet J Rare Dis. 2019 Nov 21;14(1):264. doi: 10.1186/s13023-019-1186-2.PMID: 31752940

Planned Guidelines

Guidelines on diagnosis and management of HTAD

More information on HTAD here

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Review. PMID: 28306228

Benchellal ZA, Huten N, Danquechin Dorval E, Podeur L, Rahili A, Lemeret S, De Muret A.  [Abdominal emergencies in type IV ehlers-Danlos syndrome]. Gastroenterol Clin Biol. 1998 Mar;22(3):343-5. French

Wiesmann T, Castori M, Malfait F, Wulf H. Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s). Orphanet J Rare Dis. 2014 Jul 23;9:109. doi: 10.1186/s13023-014-0109-5. Review

Boodhwani M, Andelfinger G, Leipsic J, Lindsay T, McMurtry MS, Therrien J, Siu SC; Canadian Cardiovascular Society. Canadian Cardiovascular Society position statement on the management of thoracic aortic diseaseCan J Cardiol. 2014 Jun;30(6):577-89.

Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. 2015 Jan;100(1):57-61

Bergqvist D, Björck M, Wanhainen A. Treatment of vascular Ehlers-Danlos syndrome: a systematic review. Ann Surg. 2013 Aug;258(2):257-61. doi: 10.1097/SLA.0b013e31829c7a59. Review

Chetty SP, Shaffer BL, Norton ME. Management of pregnancy in women with genetic disorders, Part 1: Disorders of the connective tissue, muscle, vascular, and skeletal systems. Obstet Gynecol Surv. 2011 Nov;66(11):699-709. Review


Damstra RJ, Halk A-B. The Dutch lymphedema guidelines based on the International Classification of Functioning, Disability, and Health and the chronic care model, Journal of Vascular Surgery, 5 (2017) 756-765. doi:10.1016/j.jvsv.2017.04.012


German guidline “Diagnostis and therapy of lymphedema“: Jörg Wilting, Rolf Bartkowski, Rüdiger Baumeister, Etelka Földi, Susanna Stöhr, Gerson Strubel, Klaus Schrader, Jürg Traber, S2k Leitlinie – Diagnostik und Therapie der Lymphödeme AWMF Reg.-Nr. 058-001, May 2017

English version of German Guidelines “Diagnostics and therapy of lymphedema” available here

Report of German Guidelines with all the collaborating members from Germany, Austria and Switzerland

The German guidelines are published here (organised by by 32 different groups in Germany, Austria and Switzerland).


The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter

Charter of Care for Children and Young People with Lymphoedema

CLSIG Childhood Lymphoedema Diagnostic and Assessment pathways

St. George’s Paediatric Investigation Tool for patients with primary lymphoedema

Classification and Diagnostic Algorithm for Primary Lymphatic Dysplasia

Supporting documents and clinic information are available here


The PNDS (French National Protocol for care in Rare Disease) for PPL

  1. Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee. Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8. Review.
  2. On the ISSVA web-site, the classification is available with more detailed genetic data: here
  3. Stillo et al. Vascular Anomalies Guidelines by the Italian Society for the Study of Vascular Anomalies (SISAV). Angiology, volume 34. April 2015, Suppl 1 to issue No. 2. (These guidelines will be discussed within the VASCA-WG for further development so as to establish first European guidelines).
  4. A. Elajmi, P. Clapuyt, F. Hammer, A.-C. Bataille, B. Lengele, L.M. Boon. Prise en charge des anomalies vasculaires chez l’enfant. Management of vascular anomalies in children. Annales de chirurgie plastique esthétique (2016). (These guidelines will be discussed within the VASCA-WG for further development so as to establish first European guidelines).

The VASCA-WG will also be working in tight collaboration with ISSVA, which is setting up working groups for establishment of best practice guidelines for various vascular anomalies.

More information on VASCA-WG

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