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Hereditary epistaxis

MedGen UID:
137928
Concept ID:
C0339819
Disease or Syndrome
Synonym: Epistaxis, Hereditary
 
OMIM®: 132500

Clinical features

From HPO
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
  • Abnormality of blood and blood-forming tissues

Professional guidelines

PubMed

Al-Samkari H
Blood 2021 Feb 18;137(7):888-895. doi: 10.1182/blood.2020008739. PMID: 33171488
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

Recent clinical studies

Etiology

Iacobas I, Hammill AM
Curr Opin Pediatr 2024 Dec 1;36(6):592-598. Epub 2024 Sep 9 doi: 10.1097/MOP.0000000000001398. PMID: 39254659
Han Y, Ding B, Li M, Song X, Liu L, Zhou H
J Clin Lab Anal 2022 Aug;36(8):e24571. Epub 2022 Jun 26 doi: 10.1002/jcla.24571. PMID: 35754156Free PMC Article
Bofarid S, Hosman AE, Mager JJ, Snijder RJ, Post MC
Int J Mol Sci 2021 Mar 27;22(7) doi: 10.3390/ijms22073471. PMID: 33801690Free 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
Peterson J
Radiol Technol 2017 Jan;88(3):277-294. PMID: 28298578

Diagnosis

Iacobas I, Hammill AM
Curr Opin Pediatr 2024 Dec 1;36(6):592-598. Epub 2024 Sep 9 doi: 10.1097/MOP.0000000000001398. PMID: 39254659
Al-Samkari H
Blood 2021 Feb 18;137(7):888-895. doi: 10.1182/blood.2020008739. PMID: 33171488
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, Holdsworth SM, Alikhaani JD, Monjur TM, Satterfield L
Otolaryngol Head Neck Surg 2020 Jan;162(1):26-32. doi: 10.1177/0194599819889945. PMID: 31910124
Peterson J
Radiol Technol 2017 Jan;88(3):277-294. PMID: 28298578

Therapy

Al-Samkari H
Blood 2021 Feb 18;137(7):888-895. doi: 10.1182/blood.2020008739. PMID: 33171488
Robert F, Desroches-Castan A, Bailly S, Dupuis-Girod S, Feige JJ
Orphanet J Rare Dis 2020 Jan 7;15(1):4. doi: 10.1186/s13023-019-1281-4. PMID: 31910860Free PMC Article
Chin CJ
Laryngoscope 2017 Feb;127(2):289-290. Epub 2016 Oct 31 doi: 10.1002/lary.26363. PMID: 27796042
Sautter NB, Smith TL
Otolaryngol Clin North Am 2016 Jun;49(3):639-54. doi: 10.1016/j.otc.2016.02.010. PMID: 27267016
Davidson TM, Olitsky SE, Wei JL
Laryngoscope 2010 Feb;120(2):432-5. doi: 10.1002/lary.20757. PMID: 19998344

Prognosis

Salibe-Filho W, Oliveira FR, Terra-Filho M
J Bras Pneumol 2023;49(2):e20220359. Epub 2023 May 1 doi: 10.36416/1806-3756/e20220359. PMID: 37132738Free 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
Ferry AM, Wright AE, Baillargeon G, Kuo YF, Chaaban MR
Am J Rhinol Allergy 2020 Mar;34(2):230-237. Epub 2019 Nov 7 doi: 10.1177/1945892419886756. PMID: 31698927
Geisthoff UW, Nguyen HL, Röth A, Seyfert U
Br J Haematol 2015 Nov;171(4):443-52. Epub 2015 Jul 23 doi: 10.1111/bjh.13606. PMID: 26205234
Kumar A, Mishra KL, Kumar A, Mishra D
Indian Pediatr 2005 Dec;42(12):1240-2. PMID: 16424563

Clinical prediction guides

Healy L, Nicholls K, Gibson R, Stella D, Bogwitz M, Taylor J, Walsh M, Donaldson L, Winship I
Intern Med J 2018 Oct;48(10):1255-1257. doi: 10.1111/imj.14059. PMID: 30288899
Dabiri J, Fakhoury R, Choufani G, Mine B, Hassid S
B-ENT 2016;12(1):9-16. PMID: 27097388
Rotenberg B, Noyek S, Chin CJ
Am J Rhinol Allergy 2015 May-Jun;29(3):226-7. doi: 10.2500/ajra.2015.29.4163. PMID: 25975256
Mortuaire G, Boute O, Hatron PY, Chevalier D
Rhinology 2013 Dec;51(4):355-60. doi: 10.4193/Rhino13.027. PMID: 24260769
Yaniv E, Preis M, Shevro J, Nageris B, Hadar T
Rhinology 2011 Jun;49(2):214-6. doi: 10.4193/Rhino09.201. PMID: 21743879

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
Hoffman H, Ashok Kumar A, Raventhiranathan N, Masoud HE, Gould GC
Interv Neuroradiol 2023 Apr;29(2):172-182. Epub 2022 Mar 3 doi: 10.1177/15910199221081715. PMID: 35238666Free PMC Article
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
Albarki H, Rimmer J
Am J Rhinol Allergy 2022 Nov;36(6):890-896. Epub 2022 Aug 4 doi: 10.1177/19458924221118131. PMID: 35929049
Sautter NB, Smith TL
Int Forum Allergy Rhinol 2012 Sep-Oct;2(5):422-31. Epub 2012 May 7 doi: 10.1002/alr.21046. PMID: 22566463

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