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Hereditary hemorrhagic telangiectasia(HHT)

MedGen UID:
52657
Concept ID:
C0039445
Disease or Syndrome
Synonyms: HHT; ORW disease; Osler hemorrhagic telangiectasia syndrome; Osler Weber Rendu syndrome; Osler-Rendu-Weber disease; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER
SNOMED CT: Osler hemorrhagic telangiectasia syndrome (21877004); Osler-Weber-Rendu disease (21877004); Hereditary hemorrhagic telangiectasia (21877004); Osler-Rendu-Weber syndrome (21877004); Osler-Rendu-Weber disease (21877004); HHT - Hereditary hemorrhagic telangiectasia (21877004)
 
Related genes: SMAD4, GDF2, ENG, ACVRL1
 
Monarch Initiative: MONDO:0019180
OMIM®: 187300
OMIM® Phenotypic series: PS187300
Orphanet: ORPHA774

Definition

An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations. [from ORDO]

Recent clinical studies

Etiology

Kim AS, Henderson KJ, Pawar S, Kim MJ, Punjani S, Pollak JS, Fahey JT, Garcia-Tsao G, Sugeng L, Young LH
J Am Heart Assoc 2020 Oct 20;9(20):e016197. Epub 2020 Oct 15 doi: 10.1161/JAHA.120.016197. PMID: 33054561Free PMC Article
Beslow LA, Breimann J, Licht DJ, Waldman J, Fallacaro S, Pyeritz RE, Goldmuntz E, Vossough A
Pediatr Neurol 2020 Sep;110:49-54. Epub 2020 May 25 doi: 10.1016/j.pediatrneurol.2020.05.008. PMID: 32718529
Vella M, Alexander MD, Mabray MC, Cooke DL, Amans MR, Glastonbury CM, Kim H, Wilson MW, Langston DE, Conrad MB, Hetts SW
AJNR Am J Neuroradiol 2020 Jun;41(6):969-975. Epub 2020 May 7 doi: 10.3174/ajnr.A6549. PMID: 32381546Free PMC Article
Dupuis-Girod S, Pitiot V, Bergerot C, Fargeton AE, Beaudoin M, Decullier E, Bréant V, Colombet B, Philouze P, Faure F, Letievant JC
Sci Rep 2019 Aug 19;9(1):11986. doi: 10.1038/s41598-019-48502-9. PMID: 31427745Free PMC Article
Parvinian A, Iyer VN, Pannu BS, Apala DR, Wood CP, Brinjikji W
AJNR Am J Neuroradiol 2017 Oct;38(10):1929-1933. Epub 2017 Aug 3 doi: 10.3174/ajnr.A5322. PMID: 28775059Free PMC Article

Diagnosis

Xu L, Xu F, Wang Q, Ke X
BMC Gastroenterol 2021 Sep 6;21(1):343. doi: 10.1186/s12876-021-01913-3. PMID: 34488642Free PMC Article
Kim AS, Henderson KJ, Pawar S, Kim MJ, Punjani S, Pollak JS, Fahey JT, Garcia-Tsao G, Sugeng L, Young LH
J Am Heart Assoc 2020 Oct 20;9(20):e016197. Epub 2020 Oct 15 doi: 10.1161/JAHA.120.016197. PMID: 33054561Free PMC Article
Beslow LA, Breimann J, Licht DJ, Waldman J, Fallacaro S, Pyeritz RE, Goldmuntz E, Vossough A
Pediatr Neurol 2020 Sep;110:49-54. Epub 2020 May 25 doi: 10.1016/j.pediatrneurol.2020.05.008. PMID: 32718529
Baysal M, Demir S, Ümit EG, Gürkan H, Baş V, Karaman Gülsaran S, Demirci U, Kırkızlar HO, Demir AM
Balkan Med J 2019 Dec 20;37(1):43-46. Epub 2019 Oct 9 doi: 10.4274/balkanmedj.galenos.2019.2019.7.2. PMID: 31594285Free PMC Article
Dupuis-Girod S, Pitiot V, Bergerot C, Fargeton AE, Beaudoin M, Decullier E, Bréant V, Colombet B, Philouze P, Faure F, Letievant JC
Sci Rep 2019 Aug 19;9(1):11986. doi: 10.1038/s41598-019-48502-9. PMID: 31427745Free PMC Article

Therapy

Das BB, Chan KC
Cardiovasc Hematol Agents Med Chem 2020;18(1):70-76. doi: 10.2174/1871525717666191028102503. PMID: 31657683
Dupuis-Girod S, Pitiot V, Bergerot C, Fargeton AE, Beaudoin M, Decullier E, Bréant V, Colombet B, Philouze P, Faure F, Letievant JC
Sci Rep 2019 Aug 19;9(1):11986. doi: 10.1038/s41598-019-48502-9. PMID: 31427745Free PMC Article
Buscarini E, Botella LM, Geisthoff U, Kjeldsen AD, Mager HJ, Pagella F, Suppressa P, Zarrabeitia R, Dupuis-Girod S, Shovlin CL; VASCERN-HHT.
Orphanet J Rare Dis 2019 Feb 4;14(1):28. doi: 10.1186/s13023-018-0982-4. PMID: 30717761Free PMC Article
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article
Huemer F, Dejaco M, Grabmer C, Melchardt T, Neureiter D, Mayer G, Egle A, Greil R, Weiss L
Wien Klin Wochenschr 2017 Feb;129(3-4):141-144. doi: 10.1007/s00508-016-1124-4. PMID: 27878613Free PMC Article

Prognosis

Kim AS, Henderson KJ, Pawar S, Kim MJ, Punjani S, Pollak JS, Fahey JT, Garcia-Tsao G, Sugeng L, Young LH
J Am Heart Assoc 2020 Oct 20;9(20):e016197. Epub 2020 Oct 15 doi: 10.1161/JAHA.120.016197. PMID: 33054561Free PMC Article
Vella M, Alexander MD, Mabray MC, Cooke DL, Amans MR, Glastonbury CM, Kim H, Wilson MW, Langston DE, Conrad MB, Hetts SW
AJNR Am J Neuroradiol 2020 Jun;41(6):969-975. Epub 2020 May 7 doi: 10.3174/ajnr.A6549. PMID: 32381546Free PMC Article
Harder EM, Fares WH
Respir Med 2019 Feb;147:26-30. Epub 2019 Jan 2 doi: 10.1016/j.rmed.2018.12.013. PMID: 30704695
Hsu YP, Hsu CW, Bai CH, Cheng SW, Chen C
Otolaryngol Head Neck Surg 2019 Jan;160(1):22-35. Epub 2018 Sep 11 doi: 10.1177/0194599818797316. PMID: 30200816
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

Clinical prediction guides

Kim AS, Henderson KJ, Pawar S, Kim MJ, Punjani S, Pollak JS, Fahey JT, Garcia-Tsao G, Sugeng L, Young LH
J Am Heart Assoc 2020 Oct 20;9(20):e016197. Epub 2020 Oct 15 doi: 10.1161/JAHA.120.016197. PMID: 33054561Free PMC Article
Xu BG, Liang J, Jia KF, Han T
BMC Gastroenterol 2020 Jun 3;20(1):169. doi: 10.1186/s12876-020-01311-1. PMID: 32493237Free PMC Article
Vella M, Alexander MD, Mabray MC, Cooke DL, Amans MR, Glastonbury CM, Kim H, Wilson MW, Langston DE, Conrad MB, Hetts SW
AJNR Am J Neuroradiol 2020 Jun;41(6):969-975. Epub 2020 May 7 doi: 10.3174/ajnr.A6549. PMID: 32381546Free PMC Article
Huemer F, Dejaco M, Grabmer C, Melchardt T, Neureiter D, Mayer G, Egle A, Greil R, Weiss L
Wien Klin Wochenschr 2017 Feb;129(3-4):141-144. doi: 10.1007/s00508-016-1124-4. PMID: 27878613Free PMC Article
Brinjikji W, Iyer VN, Yamaki V, Lanzino G, Cloft HJ, Thielen KR, Swanson KL, Wood CP
AJNR Am J Neuroradiol 2016 Aug;37(8):1479-86. Epub 2016 Mar 24 doi: 10.3174/ajnr.A4762. PMID: 27012295Free PMC Article

Recent systematic reviews

Abiri A, Goshtasbi K, Maducdoc M, Sahyouni R, Wang MB, Kuan EC
Lasers Surg Med 2020 Apr;52(4):293-300. Epub 2019 Aug 22 doi: 10.1002/lsm.23147. PMID: 31441079Free PMC Article
Hsu YP, Hsu CW, Bai CH, Cheng SW, Chen C
Otolaryngol Head Neck Surg 2019 Jan;160(1):22-35. Epub 2018 Sep 11 doi: 10.1177/0194599818797316. PMID: 30200816
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
Brinjikji W, Iyer VN, Wood CP, Lanzino G
J Neurosurg 2017 Aug;127(2):302-310. Epub 2016 Oct 21 doi: 10.3171/2016.7.JNS16847. PMID: 27767404

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