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Haemorrhagic telangiectasia 2

MedGen UID:
808181
Concept ID:
CN221551
Disease or Syndrome

Professional guidelines

PubMed

Petty WJ, Paz-Ares L
JAMA Oncol 2023 Mar 1;9(3):419-429. doi: 10.1001/jamaoncol.2022.5631. PMID: 36520421
Tunkel DE, Anne S, Payne SC, Ishman SL, Rosenfeld RM, Abramson PJ, Alikhaani JD, Benoit MM, Bercovitz RS, Brown MD, Chernobilsky B, Feldstein DA, Hackell JM, Holbrook EH, Holdsworth SM, Lin KW, Lind MM, Poetker DM, Riley CA, Schneider JS, Seidman MD, Vadlamudi V, Valdez TA, Nnacheta LC, Monjur TM
Otolaryngol Head Neck Surg 2020 Jan;162(1_suppl):S1-S38. doi: 10.1177/0194599819890327. PMID: 31910111
van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, Matucci-Cerinic M, Naden RP, Medsger TA Jr, Carreira PE, Riemekasten G, Clements PJ, Denton CP, Distler O, Allanore Y, Furst DE, Gabrielli A, Mayes MD, van Laar JM, Seibold JR, Czirjak L, Steen VD, Inanc M, Kowal-Bielecka O, Müller-Ladner U, Valentini G, Veale DJ, Vonk MC, Walker UA, Chung L, Collier DH, Ellen Csuka M, Fessler BJ, Guiducci S, Herrick A, Hsu VM, Jimenez S, Kahaleh B, Merkel PA, Sierakowski S, Silver RM, Simms RW, Varga J, Pope JE
Ann Rheum Dis 2013 Nov;72(11):1747-55. doi: 10.1136/annrheumdis-2013-204424. PMID: 24092682

Recent clinical studies

Etiology

Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E
Blood 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560. PMID: 32573726Free PMC Article
Tunkel DE, Anne S, Payne SC, Ishman SL, Rosenfeld RM, Abramson PJ, Alikhaani JD, Benoit MM, Bercovitz RS, Brown MD, Chernobilsky B, Feldstein DA, Hackell JM, Holbrook EH, Holdsworth SM, Lin KW, Lind MM, Poetker DM, Riley CA, Schneider JS, Seidman MD, Vadlamudi V, Valdez TA, Nnacheta LC, Monjur TM
Otolaryngol Head Neck Surg 2020 Jan;162(1_suppl):S1-S38. doi: 10.1177/0194599819890327. PMID: 31910111
Cummings KW, Bhalla S
Clin Chest Med 2015 Jun;36(2):235-48, viii. Epub 2015 Mar 26 doi: 10.1016/j.ccm.2015.02.007. PMID: 26024602
van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, Matucci-Cerinic M, Naden RP, Medsger TA Jr, Carreira PE, Riemekasten G, Clements PJ, Denton CP, Distler O, Allanore Y, Furst DE, Gabrielli A, Mayes MD, van Laar JM, Seibold JR, Czirjak L, Steen VD, Inanc M, Kowal-Bielecka O, Müller-Ladner U, Valentini G, Veale DJ, Vonk MC, Walker UA, Chung L, Collier DH, Ellen Csuka M, Fessler BJ, Guiducci S, Herrick A, Hsu VM, Jimenez S, Kahaleh B, Merkel PA, Sierakowski S, Silver RM, Simms RW, Varga J, Pope JE
Ann Rheum Dis 2013 Nov;72(11):1747-55. doi: 10.1136/annrheumdis-2013-204424. PMID: 24092682

Diagnosis

Hammill AM, Wusik K, Kasthuri RS
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):469-477. doi: 10.1182/hematology.2021000281. PMID: 34889398Free PMC Article
Tunkel DE, Anne S, Payne SC, Ishman SL, Rosenfeld RM, Abramson PJ, Alikhaani JD, Benoit MM, Bercovitz RS, Brown MD, Chernobilsky B, Feldstein DA, Hackell JM, Holbrook EH, Holdsworth SM, Lin KW, Lind MM, Poetker DM, Riley CA, Schneider JS, Seidman MD, Vadlamudi V, Valdez TA, Nnacheta LC, Monjur TM
Otolaryngol Head Neck Surg 2020 Jan;162(1_suppl):S1-S38. doi: 10.1177/0194599819890327. PMID: 31910111
van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, Matucci-Cerinic M, Naden RP, Medsger TA Jr, Carreira PE, Riemekasten G, Clements PJ, Denton CP, Distler O, Allanore Y, Furst DE, Gabrielli A, Mayes MD, van Laar JM, Seibold JR, Czirjak L, Steen VD, Inanc M, Kowal-Bielecka O, Müller-Ladner U, Valentini G, Veale DJ, Vonk MC, Walker UA, Chung L, Collier DH, Ellen Csuka M, Fessler BJ, Guiducci S, Herrick A, Hsu VM, Jimenez S, Kahaleh B, Merkel PA, Sierakowski S, Silver RM, Simms RW, Varga J, Pope JE
Ann Rheum Dis 2013 Nov;72(11):1747-55. doi: 10.1136/annrheumdis-2013-204424. PMID: 24092682
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; HHT Foundation International - Guidelines Working Group
J Med Genet 2011 Feb;48(2):73-87. Epub 2009 Jun 23 doi: 10.1136/jmg.2009.069013. PMID: 19553198
Khan JA, Ide CH, Strickland MP
Surv Ophthalmol 1988 Mar-Apr;32(5):317-32. doi: 10.1016/0039-6257(88)90094-x. PMID: 2457260

Therapy

Chitsuthipakorn W, Hoang MP, Kanjanawasee D, Seresirikachorn K, Snidvongs K
Curr Allergy Asthma Rep 2023 Dec;23(12):689-701. Epub 2023 Nov 23 doi: 10.1007/s11882-023-01116-8. PMID: 37995018
Yap TA, Fontana E, Lee EK, Spigel DR, Højgaard M, Lheureux S, Mettu NB, Carneiro BA, Carter L, Plummer R, Cote GM, Meric-Bernstam F, O'Connell J, Schonhoft JD, Wainszelbaum M, Fretland AJ, Manley P, Xu Y, Ulanet D, Rimkunas V, Zinda M, Koehler M, Silverman IM, Reis-Filho JS, Rosen E
Nat Med 2023 Jun;29(6):1400-1411. Epub 2023 Jun 5 doi: 10.1038/s41591-023-02399-0. PMID: 37277454Free PMC Article
Petty WJ, Paz-Ares L
JAMA Oncol 2023 Mar 1;9(3):419-429. doi: 10.1001/jamaoncol.2022.5631. PMID: 36520421
Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Tunkel DE, Anne S, Payne SC, Ishman SL, Rosenfeld RM, Abramson PJ, Alikhaani JD, Benoit MM, Bercovitz RS, Brown MD, Chernobilsky B, Feldstein DA, Hackell JM, Holbrook EH, Holdsworth SM, Lin KW, Lind MM, Poetker DM, Riley CA, Schneider JS, Seidman MD, Vadlamudi V, Valdez TA, Nnacheta LC, Monjur TM
Otolaryngol Head Neck Surg 2020 Jan;162(1_suppl):S1-S38. doi: 10.1177/0194599819890327. PMID: 31910111

Prognosis

Yap TA, Fontana E, Lee EK, Spigel DR, Højgaard M, Lheureux S, Mettu NB, Carneiro BA, Carter L, Plummer R, Cote GM, Meric-Bernstam F, O'Connell J, Schonhoft JD, Wainszelbaum M, Fretland AJ, Manley P, Xu Y, Ulanet D, Rimkunas V, Zinda M, Koehler M, Silverman IM, Reis-Filho JS, Rosen E
Nat Med 2023 Jun;29(6):1400-1411. Epub 2023 Jun 5 doi: 10.1038/s41591-023-02399-0. PMID: 37277454Free PMC Article
Petty WJ, Paz-Ares L
JAMA Oncol 2023 Mar 1;9(3):419-429. doi: 10.1001/jamaoncol.2022.5631. PMID: 36520421
Lotta LA, Pietzner M, Stewart ID, Wittemans LBL, Li C, Bonelli R, Raffler J, Biggs EK, Oliver-Williams C, Auyeung VPW, Luan J, Wheeler E, Paige E, Surendran P, Michelotti GA, Scott RA, Burgess S, Zuber V, Sanderson E, Koulman A, Imamura F, Forouhi NG, Khaw KT; MacTel Consortium, Griffin JL, Wood AM, Kastenmüller G, Danesh J, Butterworth AS, Gribble FM, Reimann F, Bahlo M, Fauman E, Wareham NJ, Langenberg C
Nat Genet 2021 Jan;53(1):54-64. Epub 2021 Jan 7 doi: 10.1038/s41588-020-00751-5. PMID: 33414548Free PMC Article
Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E
Blood 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560. PMID: 32573726Free PMC Article
Khan JA, Ide CH, Strickland MP
Surv Ophthalmol 1988 Mar-Apr;32(5):317-32. doi: 10.1016/0039-6257(88)90094-x. PMID: 2457260

Clinical prediction guides

Chitsuthipakorn W, Hoang MP, Kanjanawasee D, Seresirikachorn K, Snidvongs K
Curr Allergy Asthma Rep 2023 Dec;23(12):689-701. Epub 2023 Nov 23 doi: 10.1007/s11882-023-01116-8. PMID: 37995018
Yap TA, Fontana E, Lee EK, Spigel DR, Højgaard M, Lheureux S, Mettu NB, Carneiro BA, Carter L, Plummer R, Cote GM, Meric-Bernstam F, O'Connell J, Schonhoft JD, Wainszelbaum M, Fretland AJ, Manley P, Xu Y, Ulanet D, Rimkunas V, Zinda M, Koehler M, Silverman IM, Reis-Filho JS, Rosen E
Nat Med 2023 Jun;29(6):1400-1411. Epub 2023 Jun 5 doi: 10.1038/s41591-023-02399-0. PMID: 37277454Free PMC Article
Lotta LA, Pietzner M, Stewart ID, Wittemans LBL, Li C, Bonelli R, Raffler J, Biggs EK, Oliver-Williams C, Auyeung VPW, Luan J, Wheeler E, Paige E, Surendran P, Michelotti GA, Scott RA, Burgess S, Zuber V, Sanderson E, Koulman A, Imamura F, Forouhi NG, Khaw KT; MacTel Consortium, Griffin JL, Wood AM, Kastenmüller G, Danesh J, Butterworth AS, Gribble FM, Reimann F, Bahlo M, Fauman E, Wareham NJ, Langenberg C
Nat Genet 2021 Jan;53(1):54-64. Epub 2021 Jan 7 doi: 10.1038/s41588-020-00751-5. PMID: 33414548Free PMC Article
Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E
Blood 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560. PMID: 32573726Free PMC Article
Nadeu F, Delgado J, Royo C, Baumann T, Stankovic T, Pinyol M, Jares P, Navarro A, Martín-García D, Beà S, Salaverria I, Oldreive C, Aymerich M, Suárez-Cisneros H, Rozman M, Villamor N, Colomer D, López-Guillermo A, González M, Alcoceba M, Terol MJ, Colado E, Puente XS, López-Otín C, Enjuanes A, Campo E
Blood 2016 Apr 28;127(17):2122-30. Epub 2016 Feb 2 doi: 10.1182/blood-2015-07-659144. PMID: 26837699Free PMC Article

Recent systematic reviews

Chitsuthipakorn W, Hoang MP, Kanjanawasee D, Seresirikachorn K, Snidvongs K
Curr Allergy Asthma Rep 2023 Dec;23(12):689-701. Epub 2023 Nov 23 doi: 10.1007/s11882-023-01116-8. PMID: 37995018
Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Halderman AA, Ryan MW, Marple BF, Sindwani R, Reh DD, Poetker DM
Am J Rhinol Allergy 2018 Jul;32(4):258-268. Epub 2018 May 10 doi: 10.1177/1945892418768588. PMID: 29745243
Jackson SB, Villano NP, Benhammou JN, Lewis M, Pisegna JR, Padua D
Dig Dis Sci 2017 Oct;62(10):2623-2630. Epub 2017 Aug 23 doi: 10.1007/s10620-017-4719-3. PMID: 28836046Free PMC Article
van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA
Clin Genet 2016 Aug;90(2):105-17. Epub 2016 Jan 20 doi: 10.1111/cge.12710. PMID: 26662178

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