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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
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)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: SMAD4, GDF2, ENG, ACVRL1
 
Monarch Initiative: MONDO:0019180
OMIM®: 187300
OMIM® Phenotypic series: PS187300
Orphanet: ORPHA774

Definition

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic Telangiectasia See also HHT2 (600376), caused by mutation in the ALK1 gene (ACVRL1; 601284) on chromosome 12q13; HHT3 (601101), mapped to chromosome 5q31; HHT4 (610655), mapped to chromosome 7p14; and HHT5 (615506), caused by mutation in the GDF2 gene (605120) on chromosome 10q11. See also juvenile polyposis/HHT syndrome (175050), caused by mutation in the SMAD4 gene (600993). [from OMIM]

Professional guidelines

PubMed

Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R
Ann Intern Med 2020 Dec 15;173(12):989-1001. Epub 2020 Sep 8 doi: 10.7326/M20-1443. PMID: 32894695
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
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

Recent clinical studies

Etiology

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
Hart BL, Mabray MC, Morrison L, Whitehead KJ, Kim H
Clin Imaging 2021 Jul;75:55-66. Epub 2021 Jan 20 doi: 10.1016/j.clinimag.2021.01.020. PMID: 33493737Free 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
Komiyama M
Neurol Med Chir (Tokyo) 2016 Jun 15;56(6):317-25. Epub 2016 Apr 14 doi: 10.2176/nmc.ra.2016-0051. PMID: 27076383Free PMC Article
Cottin V, Dupuis-Girod S, Lesca G, Cordier JF
Respiration 2007;74(4):361-78. doi: 10.1159/000103205. PMID: 17641482

Diagnosis

Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD
Int J Dermatol 2022 Dec;61(12):1497-1505. Epub 2022 Jul 6 doi: 10.1111/ijd.16320. PMID: 35792874Free PMC Article
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
Hart BL, Mabray MC, Morrison L, Whitehead KJ, Kim H
Clin Imaging 2021 Jul;75:55-66. Epub 2021 Jan 20 doi: 10.1016/j.clinimag.2021.01.020. PMID: 33493737Free PMC Article
Al-Samkari H
Blood 2021 Feb 18;137(7):888-895. doi: 10.1182/blood.2020008739. PMID: 33171488
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

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
Al-Samkari H
Blood 2021 Feb 18;137(7):888-895. doi: 10.1182/blood.2020008739. PMID: 33171488
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
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
Auerbach M, Adamson JW
Am J Hematol 2016 Jan;91(1):31-8. Epub 2015 Nov 17 doi: 10.1002/ajh.24201. PMID: 26408108

Prognosis

Virk ZM, Zhang E, Rodriguez-Lopez J, Witkin A, Wong AK, Luther J, Lin AE, Ning M, Grabowski E, Holbrook EH, Al-Samkari H
J Thromb Haemost 2023 Jan;21(1):26-36. Epub 2022 Dec 22 doi: 10.1016/j.jtha.2022.09.003. PMID: 36695393Free PMC Article
Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD
Int J Dermatol 2022 Dec;61(12):1497-1505. Epub 2022 Jul 6 doi: 10.1111/ijd.16320. PMID: 35792874Free PMC Article
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
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
Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J, Kolar B
J Neuroimaging 2019 Mar;29(2):165-181. Epub 2018 Oct 31 doi: 10.1111/jon.12575. PMID: 30378722

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
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP, Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI)
Genet Med 2023 Nov;25(11):100925. Epub 2023 Jul 5 doi: 10.1016/j.gim.2023.100925. PMID: 37422716Free PMC Article
Virk ZM, Zhang E, Rodriguez-Lopez J, Witkin A, Wong AK, Luther J, Lin AE, Ning M, Grabowski E, Holbrook EH, Al-Samkari H
J Thromb Haemost 2023 Jan;21(1):26-36. Epub 2022 Dec 22 doi: 10.1016/j.jtha.2022.09.003. PMID: 36695393Free PMC Article
Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD
Int J Dermatol 2022 Dec;61(12):1497-1505. Epub 2022 Jul 6 doi: 10.1111/ijd.16320. PMID: 35792874Free 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

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
Basilio-Flores JE, Aguilar-Melgar JA, Zevallos CB, Aguirre-Carbajo R, Ortega-Gutierrez S, Pacheco-Fernandez Baca H
Neurosurg Rev 2023 Jan 28;46(1):44. doi: 10.1007/s10143-023-01951-3. PMID: 36708432
Thiele B, Abdel-Aty Y, Marks L, Lal D, Marino M
Ann Otol Rhinol Laryngol 2023 Jan;132(1):82-90. Epub 2022 Feb 12 doi: 10.1177/00034894221078075. PMID: 35152768
Felli E, Addeo P, Faitot F, Nappo G, Oncioiu C, Bachellier P
HPB (Oxford) 2017 Jul;19(7):567-572. Epub 2017 Apr 17 doi: 10.1016/j.hpb.2017.03.005. PMID: 28427830
Liu C, Chen J
Cochrane Database Syst Rev 2006 Jul 19;(3):CD004434. doi: 10.1002/14651858.CD004434.pub3. PMID: 16856046

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