Россия
Россия
Россия
Россия
Россия
Представлены обзор литературы и клинический случай по теме наследственной геморрагической телеангиэктазии. Рассмотрены современные диагностические принципы, позволяющие определить диагноз и методы лечения заболевания.
наследственная геморрагическая телеангиэктазия (болезнь Рандю–Ослера–Вебера), клинический случай, диагностика, дифференциальная диагностика
1. Faughnan M.E., Mager J.J., Hetts S.W., Palda V.A., Lang-Robertson K., Buscarini E., Deslandres E., Kasthuri R.S., Lausman A., Poetker D., Ratjen F., Chesnutt M.S., Clancy M., Whitehead K.J., 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 J.R., Hammill A., Heimdal K., Henderson K., Iyer V.N., Kjeldsen A.D., Komiyama M., Korenblatt K., McDonald J., McMahon J., McWilliams J., Meek M.E., Mei-Zahav M., Olitsky S., Palmer S., Pantalone R., Piccirillo J.F., Plahn B., Porteous M.E.M., Post M.C., Radovanovic I., Rochon P.J., Rodriguez- Lopez J., Sabba C., Serra M., Shovlin C., Sprecher D., White A.J, Winship I., Zarrabeitia R. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia // Ann Intern Med. – 2020 Dec 15; 173(12):989–1001. Doi:https://doi.org/10.7326/M20-1443
2. Saparia T., Faughnan M.E., Schneider J.L., Almers L.M., Chow N., Grosse S.D., Kim H., Zaroff J.G. Assessing the Hereditary Hemorrhagic Telangiectasia Algorithms in a Community-Based Patient Population // Perm J. – 2019; 23:18–145. Doi:https://doi.org/10.7812/TPP/18-145
3. Pierucci P., Lenato G.M., Suppressa P., Lastella P., Triggiani V., Valerio R., Comelli M., Salvante D., Stella A., Resta N., Logroscino G., Resta F., Sabbà C. A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study // Orphanet J Rare Dis. – 2012 Jun 7; 7:33. Doi:https://doi.org/10.1186/1750-1172-7-33
4. McDonald J., Wooderchak-Donahue W., VanSant Webb C., Whitehead K., Stevenson D.A., Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era // Front Genet. – 2015 Jan 26; 6:1. Doi:https://doi.org/10.3389/fgene.2015.00001
5. McDonald J., Bayrak-Toydemir P., Pyeritz R.E. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis // Genet Med. –2011 Jul; 13(7):607-16. Doi:https://doi.org/10.1097/GIM.0b013e3182136d32
6. Вaysal M., Demir S., Ümit E.G., Gürkan H., Baş V., Karaman Gülsaran S., Demirci U., Kırkızlar H.O., Demir A.M. Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients // Balkan Med J. – 2019 Dec 20; 37(1):43–46. Doi:https://doi.org/10.4274/balkanmedj.galenos.2019.2019.7.2
7. Faughnan M.E., Mager J.J., Hetts S.W., Palda V.A., Lang-Robertson K., Buscarini E., Deslandres E., Kasthuri R.S., Lausman A., Poetker D., Ratjen F., Chesnutt M.S., Clancy M., Whitehead K.J., 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 J.R., Hammill A., Heimdal K., Henderson K., Iyer V.N., Kjeldsen A.D., Komiyama M., Korenblatt K., McDonald J., McMahon J., McWilliams J., Meek M.E., Mei-Zahav M., Olitsky S., Palmer S., Pantalone R., Piccirillo J.F., Plahn B., Porteous M.E.M., Post M.C., Radovanovic I., Rochon P.J., Rodriguez- Lopez J., Sabba C., Serra M., Shovlin C., Sprecher D., White A.J., Winship I., Zarrabeitia R. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia // Ann Intern Med. – 2020 Dec 15; 173(12):989–1001. Doi:https://doi.org/10.7326/M20-1443
8. McDonald J., Wooderchak-Donahue W., VanSant Webb C., Whitehead K., Stevenson D.A., Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era // Front Genet. – 2015 Jan 26; 6:1. Doi:https://doi.org/10.3389/fgene.2015.00001
9. Viteri-Noël A., González-García A., Patier J.L., Fabregate M., Bara-Ledesma N., López-Rodríguez M., Gómez del Olmo V., Manzano L. Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management // J. Clin. Med. – 2022, 11, 5245 https://doi.org/10.3390/ jcm11175245
10. Brinjikji W., Iyer V.N., Wood C.P., Lanzino G. Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis // J Neurosurg. – 2017 Aug; 127(2):302-310. Doi:https://doi.org/10.3171/2016.7.JNS16847
11. Brinjikji W., Iyer V.N., Sorenson T., Lanzino G. Cerebrovascular Manifestations of Hereditary Hemorrhagic Telangiectasia // Stroke. – 2015 Nov; 46(11):3329-37. Doi:https://doi.org/10.1161/STROKEAHA.115.010984
12. Ianora A.A., Memeo M., Sabba C., Cirulli A., Rotondo A., Angelelli G. Hereditary hemorrhagic telangiectasia: multi-detector row helical CT assessment of hepatic involvement // Radiology. – 2004 Jan; 230(1):250–9. Doi:https://doi.org/10.1148/radiol.2301021745
13. Buscarini E., Danesino C., Olivieri C., Lupinacci G., De Grazia F., Reduzzi L., Blotta P., Gazzaniga P., Pagella F., Grosso M., Pongiglione G., Buscarini L., Plauchu H., Zambelli A. Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia – results of extensive screening // Ultraschall Med. – 2004 Sep; 25(5):348–55. Doi:https://doi.org/10.1055/s-2004–813549
14. Buscarini E., Danesino C., Plauchu H., de Fazio C., Olivieri C., Brambilla G., Menozzi F., Reduzzi L., Blotta P., Gazzaniga P., Pagella F., Grosso M., Pongiglione G., Cappiello J., Zambelli A. High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia // Ultrasound Med Biol. – 2004 Sep; 30(9):1089–97. Doi:https://doi.org/10.1016/j.ultrasmedbio.2004.08.004
15. Garcia-Tsao G., Korzenik J.R., Young L., Henderson K.J., Jain D., Byrd B., Pollak JS, White R.I. Jr. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl // J Med. – 2000 Sep 28; 343(13):931–6. Doi:https://doi.org/10.1056/NEJM200009283431305
16. Jim S. Wu, Sanjay Saluja, Guadalupe Garcia-Tsao, Alice Chong, Katherine J. Henderson, Robert I. White, Jr. Liver Involvement in Hereditary Hemorrhagic Telangiectasia: CT and Clinical Findings Do Not Correlate in Symptomatic Patients // American Journal of Roentgenology. – 2006
17. Garcia-Tsao G. Liver involvement in hereditary hemorrhagic telangiectasia (HHT) // J Hepatol. – 2007 Mar; 46(3):499–507. Doi:https://doi.org/10.1016/j.jhep.2006.12.008
18. Khalid S.K., Garcia-Tsao G. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia // Semin Liver Dis. – 2008 Aug; 28(3):247–58. Doi:https://doi.org/10.1055/s-0028-1085093
19. Nicoletti D., Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Case study, Radiopaedia.org (Accessed on 08 Dec 2024). https://doi.org/10.53347/rID-83621
20. Jackson S.B., Villano N.P., Benhammou J.N., Lewis M., Pisegna J.R., Padua D. Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature // Dig Dis Sci. – 2017 Oct; 62(10):2623–2630. Doi:https://doi.org/10.1007/s10620-017-4719-3
21. Jargielo A., Rycyk A., Kasztelan-Szczerbinska B., Cichoz-Lach H. A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome // Medicina (Kaunas). – 2022 Feb 22; 58(3):333. Doi:https://doi.org/10.3390/medicina58030333
22. Tortora A., Riccioni M.E., Gaetani E. et al. Rendu-Osler-Weber disease: a gastroenterologist’s perspective // Orphanet J Rare Dis 14, 130 (2019). https://doi.org/10.1186/s13023-019-1107-4
23. Canzonieri C., Centenara L., Ornati F., Pagella F., Matti E., Alvisi C., Danesino C., Perego M., Olivieri C. Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes // Genet Med. – 2014 Jan; 16(1):3–10. Doi:https://doi.org/10.1038/gim.2013.62
24. Proctor D.D., Henderson K.J., Dziura J.D., Longacre A.V., White R.I. Enteroscopic evaluation of the gastrointestinal tract in symptomatic patients with hereditary hemorrhagic telangiectasia // J Clin Gastroenterol. – 2005; 39:115–9.
25. Ingrosso M., Sabbà C., Pisani A., Principi M., Gallitelli M., Cirulli A., Francavilla A. Evidence of small- bowel involvement in hereditary hemorrhagic telangiectasia: a capsule-endoscopic study // Endoscopy. – 2004 Dec; 36(12):1074–9. Doi:https://doi.org/10.1055/s-2004-826045
26. https://www.endoskopiebilder.de/en/morbus-osler-magen
27. Shovlin C.L., Guttmacher A.E., Buscarini E., Faughnan M.E., Hyland R.H., Westermann C.J., Kjeldsen A.D., Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) // Am J Med Genet. – 2000 Mar 6; 91(1):66–7.
28. Faughnan M.E., Mager J.J., Hetts S.W., Palda V.A., Lang-Robertson K., Buscarini E. et al. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia // Ann Intern Med. – 2020 Dec 15: 173(12):989–1001.
29. Al-Samkari H. Hereditary hemorrhagic telangiectasia: systemic therapies, guidelines, and an evolving standard of care // Blood. – 2021 Feb 18; 137(7):888–895. Doi:https://doi.org/10.1182/blood.2020008739
30. Faughnan M.E., Mager J.J., Hetts S.W., Palda V.A., Lang-Robertson K., Buscarini E. et al. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia // Ann Intern Med. – 2020 Dec 15; 173(12):989–1001.
31. Faughnan M.E., Mager J.J., Hetts S.W., Palda V.A., Lang-Robertson K., Buscarini E. et al. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia // Ann Intern Med. – 2020 Dec 15; 173(12):989–1001.



