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

doi:10.7326/M20-1443

Practice Guideline

. 2020 Dec 15;173(12):989-1001.

doi: 10.7326/M20-1443. Epub 2020 Sep 8.

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

Marie E Faughnan¹, Johannes J Mager², Steven W Hetts³, Valerie A Palda⁴, Kelly Lang-Robertson⁵, Elisabetta Buscarini⁶, Erik Deslandres⁷, Raj S Kasthuri⁸, Andrea Lausman⁹, David Poetker¹⁰, Felix Ratjen¹¹, Mark S Chesnutt¹², Marianne Clancy¹³, Kevin J Whitehead¹⁴, Hanny Al-Samkari¹⁵, Murali Chakinala¹⁶, Miles Conrad³, Daniel Cortes¹⁷, Claudia Crocione¹⁸, Jama Darling⁸, Els de Gussem¹⁹, Carol Derksen²⁰, Sophie Dupuis-Girod²¹, Patrick Foy¹⁰, Urban Geisthoff²², James R Gossage²³, Adrienne Hammill²⁴, Ketil Heimdal²⁵, Katharine Henderson²⁶, Vivek N Iyer²⁷, Anette D Kjeldsen²⁸, Masaki Komiyama²⁹, Kevin Korenblatt¹⁶, Jamie McDonald¹⁴, Jack McMahon³⁰, Justin McWilliams³¹, Mary E Meek³², Meir Mei-Zahav³³, Scott Olitsky¹³, Sara Palmer³⁴, Rose Pantalone⁹, Jay F Piccirillo¹⁶, Beth Plahn³⁵, Mary E M Porteous³⁶, Marco C Post³⁷, Ivan Radovanovic³⁸, Paul J Rochon³⁹, Josanna Rodriguez-Lopez⁴⁰, Carlo Sabba⁴¹, Marcelo Serra⁴², Claire Shovlin⁴³, Dennis Sprecher⁴⁴, Andrew J White¹⁶, Ingrid Winship⁴⁵, Roberto Zarrabeitia⁴⁶

Affiliations

¹ St. Michael's Hospital, Li Ka Shing Knowledge Institute, and University of Toronto, Toronto, Ontario, Canada (M.E.F.).
² St. Antonius Hospital, Nieuwegein, the Netherlands (J.J.M.).
³ University of California, San Francisco, San Francisco, California (S.W.H., M.C.).
⁴ University of Toronto, Toronto, Ontario, Canada (V.A.P.).
⁵ Centre for Effective Practice, Toronto, Ontario, Canada (K.L.).
⁶ HHT Reference Center ERN, Ospedale Maggiore, ASST Crema, Crema, Italy (E.B.).
⁷ Centre Hospitalier de l'Université de Montréal, Hôtel-Dieu, Montreal, Quebec, Canada (E.D.).
⁸ University of North Carolina at Chapel Hill, Chapel Hill, North Carolina (R.S.K., J.D.).
⁹ St. Michael's Hospital and University of Toronto, Toronto, Ontario, Canada (A.L., R.P.).
¹⁰ Froedtert and Medical College of Wisconsin, Milwaukee, Wisconsin (D.P., P.F.).
¹¹ The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada (F.R.).
¹² VA Portland Health Care System and Oregon Health & Science University, Portland, Oregon (M.S.C.).
¹³ Cure HHT, Monkton, Maryland (M.C., S.O.).
¹⁴ University of Utah Medical Center, Salt Lake City, Utah (K.J.W., J.M.).
¹⁵ Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts (H.A.).
¹⁶ Washington University School of Medicine, St. Louis, Missouri (M.C., K.K., J.F.P., A.J.W.).
¹⁷ St. Michael's Hospital and Unity Health Toronto, Toronto, Canada (D.C.).
¹⁸ HHT Europe, Rome, Italy (C.C.).
¹⁹ Grace Hospital, Winnipeg, Manitoba, Canada (E.D.).
²⁰ HHT Canada, Spruce Grove, Alberta, Canada (C.D.).
²¹ Hospices Civils de Lyon, Femme-Mère-Enfant, Lyon, France (S.D.).
²² University Hospital of Marburg and Phillips University Marburg, Marburg, Germany (U.G.).
²³ Augusta University, Augusta, Georgia (J.R.G.).
²⁴ Cincinnati Children's Hospital and University of Cincinnati, Cincinnati, Ohio (A.H.).
²⁵ Oslo University Hospital, Rikshospitalet, Oslo, Norway (K.H.).
²⁶ Yale University School of Medicine, New Haven, Connecticut (K.H.).
²⁷ Mayo Clinic, Rochester, Minnesota (V.N.I.).
²⁸ Odense University Hospital, Odense, Denmark (A.D.K.).
²⁹ Osaka City General Hospital, Osaka, Japan (M.K.).
³⁰ Chester, New Jersey (J.M.).
³¹ University of California, Los Angeles, Los Angeles, California (J.M.).
³² University of Arkansas for Medical Sciences, Little Rock, Arkansas (M.E.M.).
³³ Schneider Children's Medical Center of Israel and Sackler School of Medicine of Tel Aviv University, Tel Aviv, Israel (M.M.).
³⁴ Baltimore, Maryland (S.P.).
³⁵ Sioux Falls, South Dakota (B.P.).
³⁶ University of Edinburgh, Edinburgh, Scotland (M.E.P.).
³⁷ St. Antonius Hospital, Nieuwegein, and University Medical Center Utrecht, Utrecht, the Netherlands (M.C.P.).
³⁸ Toronto Western Hospital and University of Toronto, Toronto, Ontario, Canada (I.R.).
³⁹ University of Colorado Hospital, Aurora, Colorado (P.J.R.).
⁴⁰ Massachusetts General Hospital, Boston, Massachusetts (J.R.).
⁴¹ University of Bari, Bari, Italy (C.S.).
⁴² Hospital Italiano de Buenos Aires, Buenos Aires, Argentina (M.S.).
⁴³ Hammersmith Hospital, London, England (C.S.).
⁴⁴ Blue Bell, Pennsylvania (D.S.).
⁴⁵ Royal Melbourne Hospital and University of Melbourne, Melbourne, Victoria, Australia (I.W.).
⁴⁶ Hospital Sierrallana (Servicio Cántabro de Salud), Torrelavega, Spain (R.Z.).

PMID: 32894695
DOI: 10.7326/M20-1443

Free article

Practice Guideline

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

Marie E Faughnan et al. Ann Intern Med. 2020.

Free article

. 2020 Dec 15;173(12):989-1001.

doi: 10.7326/M20-1443. Epub 2020 Sep 8.

Authors

Affiliations

¹ St. Michael's Hospital, Li Ka Shing Knowledge Institute, and University of Toronto, Toronto, Ontario, Canada (M.E.F.).
² St. Antonius Hospital, Nieuwegein, the Netherlands (J.J.M.).
³ University of California, San Francisco, San Francisco, California (S.W.H., M.C.).
⁴ University of Toronto, Toronto, Ontario, Canada (V.A.P.).
⁵ Centre for Effective Practice, Toronto, Ontario, Canada (K.L.).
⁶ HHT Reference Center ERN, Ospedale Maggiore, ASST Crema, Crema, Italy (E.B.).
⁷ Centre Hospitalier de l'Université de Montréal, Hôtel-Dieu, Montreal, Quebec, Canada (E.D.).
⁸ University of North Carolina at Chapel Hill, Chapel Hill, North Carolina (R.S.K., J.D.).
⁹ St. Michael's Hospital and University of Toronto, Toronto, Ontario, Canada (A.L., R.P.).
¹⁰ Froedtert and Medical College of Wisconsin, Milwaukee, Wisconsin (D.P., P.F.).
¹¹ The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada (F.R.).
¹² VA Portland Health Care System and Oregon Health & Science University, Portland, Oregon (M.S.C.).
¹³ Cure HHT, Monkton, Maryland (M.C., S.O.).
¹⁴ University of Utah Medical Center, Salt Lake City, Utah (K.J.W., J.M.).
¹⁵ Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts (H.A.).
¹⁶ Washington University School of Medicine, St. Louis, Missouri (M.C., K.K., J.F.P., A.J.W.).
¹⁷ St. Michael's Hospital and Unity Health Toronto, Toronto, Canada (D.C.).
¹⁸ HHT Europe, Rome, Italy (C.C.).
¹⁹ Grace Hospital, Winnipeg, Manitoba, Canada (E.D.).
²⁰ HHT Canada, Spruce Grove, Alberta, Canada (C.D.).
²¹ Hospices Civils de Lyon, Femme-Mère-Enfant, Lyon, France (S.D.).
²² University Hospital of Marburg and Phillips University Marburg, Marburg, Germany (U.G.).
²³ Augusta University, Augusta, Georgia (J.R.G.).
²⁴ Cincinnati Children's Hospital and University of Cincinnati, Cincinnati, Ohio (A.H.).
²⁵ Oslo University Hospital, Rikshospitalet, Oslo, Norway (K.H.).
²⁶ Yale University School of Medicine, New Haven, Connecticut (K.H.).
²⁷ Mayo Clinic, Rochester, Minnesota (V.N.I.).
²⁸ Odense University Hospital, Odense, Denmark (A.D.K.).
²⁹ Osaka City General Hospital, Osaka, Japan (M.K.).
³⁰ Chester, New Jersey (J.M.).
³¹ University of California, Los Angeles, Los Angeles, California (J.M.).
³² University of Arkansas for Medical Sciences, Little Rock, Arkansas (M.E.M.).
³³ Schneider Children's Medical Center of Israel and Sackler School of Medicine of Tel Aviv University, Tel Aviv, Israel (M.M.).
³⁴ Baltimore, Maryland (S.P.).
³⁵ Sioux Falls, South Dakota (B.P.).
³⁶ University of Edinburgh, Edinburgh, Scotland (M.E.P.).
³⁷ St. Antonius Hospital, Nieuwegein, and University Medical Center Utrecht, Utrecht, the Netherlands (M.C.P.).
³⁸ Toronto Western Hospital and University of Toronto, Toronto, Ontario, Canada (I.R.).
³⁹ University of Colorado Hospital, Aurora, Colorado (P.J.R.).
⁴⁰ Massachusetts General Hospital, Boston, Massachusetts (J.R.).
⁴¹ University of Bari, Bari, Italy (C.S.).
⁴² Hospital Italiano de Buenos Aires, Buenos Aires, Argentina (M.S.).
⁴³ Hammersmith Hospital, London, England (C.S.).
⁴⁴ Blue Bell, Pennsylvania (D.S.).
⁴⁵ Royal Melbourne Hospital and University of Melbourne, Melbourne, Victoria, Australia (I.W.).
⁴⁶ Hospital Sierrallana (Servicio Cántabro de Salud), Torrelavega, Spain (R.Z.).

PMID: 32894695
DOI: 10.7326/M20-1443

Abstract

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.

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Comment in

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Clancy MS, Palmer S, Olitsky S, Crocioni C, Plahn B. Clancy MS, et al. Ann Intern Med. 2021 Jul;174(7):1036. doi: 10.7326/L21-0068. Ann Intern Med. 2021. PMID: 34280349 No abstract available.
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Geisthoff U. Geisthoff U. Ann Intern Med. 2021 Jul;174(7):1034-1035. doi: 10.7326/L21-0066. Ann Intern Med. 2021. PMID: 34280350 No abstract available.
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Faughnan ME, Mager JJ, Hetts SW, Palda VA, Ratjen F. Faughnan ME, et al. Ann Intern Med. 2021 Jul;174(7):1035-1036. doi: 10.7326/L21-0067. Ann Intern Med. 2021. PMID: 34280351 No abstract available.

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

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

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