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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

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
Al-Samkari H, Kasthuri RS, Parambil JG, Albitar HA, Almodallal YA, Vázquez C, Serra MM, Dupuis-Girod S, Wilsen CB, McWilliams JP, Fountain EH, Gossage JR, Weiss CR, Latif MA, Issachar A, Mei-Zahav M, Meek ME, Conrad M, Rodriguez-Lopez J, Kuter DJ, Iyer VN
Haematologica 2021 Aug 1;106(8):2161-2169. doi: 10.3324/haematol.2020.261859. PMID: 32675221Free 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
Guha A, Schalek P, Chovanec M
Eur Arch Otorhinolaryngol 2019 Apr;276(4):939-944. Epub 2019 Jan 30 doi: 10.1007/s00405-019-05310-1. PMID: 30701275
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

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
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
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

Therapy

Zhang E, Virk ZM, Rodriguez-Lopez J, Al-Samkari H
Thromb Res 2023 Jun;226:150-155. Epub 2023 May 3 doi: 10.1016/j.thromres.2023.04.017. PMID: 37163869Free PMC Article
Al-Samkari H
Blood 2021 Feb 18;137(7):888-895. doi: 10.1182/blood.2020008739. PMID: 33171488
Al-Samkari H, Kasthuri RS, Parambil JG, Albitar HA, Almodallal YA, Vázquez C, Serra MM, Dupuis-Girod S, Wilsen CB, McWilliams JP, Fountain EH, Gossage JR, Weiss CR, Latif MA, Issachar A, Mei-Zahav M, Meek ME, Conrad M, Rodriguez-Lopez J, Kuter DJ, Iyer VN
Haematologica 2021 Aug 1;106(8):2161-2169. doi: 10.3324/haematol.2020.261859. PMID: 32675221Free PMC Article
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
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

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
Al-Samkari H
Semin Thromb Hemost 2022 Jul;48(5):514-528. Epub 2022 Feb 28 doi: 10.1055/s-0042-1743467. PMID: 35226946
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
Lupa MD, Wise SK
Curr Opin Otolaryngol Head Neck Surg 2017 Feb;25(1):64-68. doi: 10.1097/MOO.0000000000000319. PMID: 27841771
Rimmer J, Lund VJ
Rhinology 2015 Sep;53(3):195-203. doi: 10.4193/Rhino14.274. PMID: 26460394

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
Ola R, Hessels J, Hammill A, Friday C, Clancy M, Al-Samkari H, Meadows S, Iyer V, Akhurst R
Angiogenesis 2023 Aug;26(Suppl 1):27-37. Epub 2023 Sep 11 doi: 10.1007/s10456-023-09886-5. PMID: 37695357Free PMC Article
Thompson KP, Sykes J, Chandakkar P, Marambaud P, Vozoris NT, Marchuk DA, Faughnan ME
Orphanet J Rare Dis 2022 Nov 7;17(1):405. doi: 10.1186/s13023-022-02539-8. PMID: 36344987Free PMC Article
Kitayama K, Ishiguro T, Komiyama M, Morisaki T, Morisaki H, Minase G, Hamanaka K, Miyatake S, Matsumoto N, Kato M, Takahashi T, Yorifuji T
BMC Med Genomics 2021 Dec 6;14(1):288. doi: 10.1186/s12920-021-01139-y. PMID: 34872578Free PMC Article
Al-Samkari H, Kasthuri RS, Parambil JG, Albitar HA, Almodallal YA, Vázquez C, Serra MM, Dupuis-Girod S, Wilsen CB, McWilliams JP, Fountain EH, Gossage JR, Weiss CR, Latif MA, Issachar A, Mei-Zahav M, Meek ME, Conrad M, Rodriguez-Lopez J, Kuter DJ, Iyer VN
Haematologica 2021 Aug 1;106(8):2161-2169. doi: 10.3324/haematol.2020.261859. PMID: 32675221Free 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
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
Kamhieh Y, Fox H
Clin Otolaryngol 2016 Dec;41(6):771-776. Epub 2016 Mar 18 doi: 10.1111/coa.12645. PMID: 26946067
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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