Top

Published in:

Open Access 04-05-2023 | SARS-CoV-2 | IM - ORIGINAL

Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter study

Authors: Patrizia Suppressa, Eugenia Maiorano, Eleonora Gaetani, Elina Matti, Gennaro Mariano Lenato, Ilaria Serio, Maristella Salvatora Masala, Giulio Cesare Passali, Maria Aguglia, Claudia Crocione, Pietro Luigi Lopalco, Francesca Caneschi, Valeria Musella, Annalisa De Silvestri, Giulia Gambini, Giuseppe Spinozzi, Carlo Sabbà, Fabio Pagella

Published in: Internal and Emergency Medicine | Issue 4/2023

Abstract

Rare Disease patients manifested high concern regarding the possible increased risk of severe outcomes and worsening of disease-specific clinical manifestation due to the impact of COVID-19. Our aim was to assess the prevalence, outcomes, and impact of COVID-19 in patients with a rare disease such as Hereditary Hemorrhagic Telangiectasia (HHT) in Italian population. A nationwide, multicentric, cross-sectional observational study was conducted on patients with HHT from five Italian HHT centers by online survey. The association between COVID-19-related signs and symptoms and nosebleeds worsening, the impact of personal protective equipment on nosebleeds pattern, and the relationship between the presence of visceral AVMs and severe outcomes were analyzed. Out of 605 total survey responses and eligible for analysis, 107 cases of COVID-19 were reported. A mild-course COVID-19 disease, not requiring hospitalization, was observed in 90.7% of patients, while the remaining eight cases needed hospitalization, two of them requiring intensive-care access. No fatal outcome was recorded and 79.3% of patients reported a complete recovery. No difference in infection risk and outcome between HHT patients and general population was evidenced. No significative interference of COVID-19 on HHT-related bleeding was found. The majority of patients received COVID-19 vaccination, with relevant impact on symptoms and need for hospitalization in case of infection. COVID-19 in HHT patients had an infection profile similar to the general population. COVID-19 course and outcome were independent from any specific HHT-related clinical features. Moreover, COVID-19 and anti-SARS-CoV-2 measures did not seem to affect significantly HHT-related bleeding profile.

Available only for authorised users

Faughnan ME, Mager JJ, Hetts SW et al (2020) Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Ann Intern Med 173:989–1001. https://doi.org/10.7326/M20-1443CrossRefPubMed

McDonald J, Bayrak-Toydemir P, Pyeritz RE (2011) Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med 13(7):607–616. https://doi.org/10.1097/GIM.0b013e3182136d32CrossRefPubMed

Olivieri C, Pagella F, Semino L et al (2007) Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. J Hum Genet 52(10):820–829. https://doi.org/10.1007/s10038-007-0187-5CrossRefPubMed

Lenato GM, Lastella P, Di Giacomo MC, Resta N, Suppressa P, Pasculli G, Sabbà C, Guanti G (2006) DHPLC-based analysis of mutations in ENG and ALK1 genes in HHT Italian population. Hum Mutat 27:213–214CrossRefPubMed

Sabbà C (2005) A rare and misdiagnosed bleeding disorder: hereditary hemorrhagic telangiectasia. J Thromb Haemost 3(10):2201–2210. https://doi.org/10.1111/j.1538-7836.2005.01345.xCrossRefPubMed

Shovlin CL, Buscarini E, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Geisthoff U, Ugolini S, Dupuis-Girod S (2018) European reference network for rare vascular diseases (VASCERN) outcome measures for hereditary haemorrhagic telangiectasia (HHT). Orphanet J Rare Dis 13(1):136. https://doi.org/10.1186/s13023-018-0850-2CrossRefPubMedPubMedCentral

McDonald J, Wooderchak-Donahue W, Van Sant WC, Whitehead K, Stevenson DA, Bayrak-Toydemir P (2015) Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet 6:1. https://doi.org/10.3389/fgene.2015.00001CrossRefPubMedPubMedCentral

Morens DM, Daszak P, Taubenberger JK (2020) Escaping Pandora’s box-another novel coronavirus. N Engl J Med 382:1293–1295CrossRefPubMed

Wu Z, McGoogan JM (2020) Characteristics of and important lessons from the coronavirus disease 2019 (COVID-19) outbreak in china: summary of a report of 72 314 cases from the Chinese Center for disease control and prevention. JAMA 7(323):1239–1242CrossRef

10.

Guan WJ, Ni ZY, Hu Y, Liang WH, Ou CQ, He JX et al (2020) Clinical characteristics of coronavirus disease 2019 in China. N Engl J Med 382:1708–1720CrossRefPubMed

11.

Huang C, Wang Y, Li X, Ren L, Zhao J, Hu Y et al (2020) Clinical features of patients infected with 2019 novel coronavirus in Wuhan China. Lancet 395:497–506CrossRefPubMedPubMedCentral

12.

Gaetani E, Passali GC, Riccioni ME, Tortora A, Pola R, Costamagna G, Gasbarrini A, Multidisciplinary Gemelli Group for HHT (2020) Hereditary haemorrhagic telangiectasia: a disease not to be forgotten during the COVID-19 pandemic. J Thromb Haemost 18(7):1799–1801. https://doi.org/10.1111/jth.14885CrossRefPubMedPubMedCentral

13.

Gallitelli M, Pasculli G, Fiore T, Carella A, Sabbà C (2006) Emergencies in hereditary haemorrhagic telangiectasia. QJM 99(1):15–22. https://doi.org/10.1093/qjmed/hci148CrossRefPubMed

14.

Suppressa P, Pagella F, Lenato GM et al (2021) Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy. Orphanet J Rare Dis 16(1):378. https://doi.org/10.1186/s13023-021-02000-2CrossRefPubMedPubMedCentral

15.

Riera-Mestre A, Iriarte A, Moreno M, Del Castillo R, López-Wolf D (2021) Angio- genesis, hereditary hemorrhagic telangiectasia and COVID-19. Angiogenesis 24(1):13–15. https://doi.org/10.1007/s10456-020-09755-5CrossRefPubMed

16.

Marcos S, Albiñana V, Recio-Poveda L, Tarazona B, Verde-González MP, Ojeda-Fernández L, Botella LM (2021) SARS-CoV-2 infection in hereditary hemorrhagic telangiectasia patients suggests less clinical impact than in the general population. J Clin Med 10(9):1884. https://doi.org/10.3390/jcm10091884CrossRefPubMedPubMedCentral

17.

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber syndrome). Am J Med Genet 91(1):66–67. https://doi.org/10.1002/(sici)1096-8628(20000306)91:1%3c66::aid-ajmg12%3e3.0.co;2-pCrossRefPubMed

18.

Scotti C, Olivieri C, Boeri L, Canzonieri C, Ornati F, Buscarini E, Pagella F, Danesino C (2011) Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. PLoS ONE 6(10):e26431. https://doi.org/10.1371/journal.pone.0026431CrossRefPubMedPubMedCentral

19.

Sabbà C, Pasculli G, Lenato GM, Suppressa P, Lastella P, Memeo M, Dicuonzo F, Guanti G (2007) Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. J Thromb Haemost 5(6):1149–1157. https://doi.org/10.1111/j.1538-7836.2007.02531.xCrossRefPubMed

20.

Pagella F, Lizzio R, Ugolini S, Spinozzi G, Maiorano E, Suppressa P, Sabbà C, Matti E (2020) Diagnostic testing for SARS-CoV-2 infection in HHT patients: nasopharyngeal versus oropharyngeal swab. Orphanet J Rare Dis 15(1):350. https://doi.org/10.1186/s13023-020-01628-wCrossRefPubMedPubMedCentral

21.

Pagani G, Giacomelli A, Conti F, Bernacchia D, Rondanin R, Prina A, Scolari V, Rizzo A, Beltrami M, Caimi C, Gandolfi CE, Castaldi S, Rivieccio BA, Buonanno G, Marano G, Ottomano C, Boracchi P, Biganzoli E, Galli M (2021) Prevalence of SARS-CoV-2 in an area of unrestricted viral circulation: mass seroepidemiological screening in Castiglione d’Adda, Italy. PLoS ONE 16(2):e0246513. https://doi.org/10.1371/journal.pone.0246513CrossRefPubMedPubMedCentral

22.

Williamson EJ, Walker AJ, Bhaskaran K, Bacon S, Bates C, Morton CE, Curtis HJ, Mehrkar A, Evans D, Inglesby P, Cockburn J, McDonald HI, MacKenna B, Tomlinson L, Douglas IJ, Rentsch CT, Mathur R, Wong AYS, Grieve R, Har-Rison D, Forbes H, Schultze A, Croker R, Parry J, Hester F, Harper S, Perera R, Evans SJW, Smeeth L, Goldacre B (2020) Factors associated with COVID-19-related death using OpenSAFELY. Nature 584(7821):430–436. https://doi.org/10.1038/s41586-020-2521-4CrossRefPubMedPubMedCentral

23.

Chung CCY, Ng YNC, Jain R, Chung BHY (2021) A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region. Orphanet J Rare Dis 16(1):119. https://doi.org/10.1186/s13023-021-01766-9CrossRefPubMedPubMedCentral

24.

Zhang H, Thygesen JH, Shi T et al (2022) Increased COVID-19 mortality rate in rare disease patients: a retrospective cohort study in participants of the genomics England 100,000 Genomes project. Orphanet J Rare Dis 17(1):166. https://doi.org/10.1186/s13023-022-02312-xCrossRefPubMedPubMedCentral

25.

Chung CC, Wong WH, Fung JL, Hong Kong RD, Chung BH (2020) Impact of COVID-19 pandemic on patients with rare disease in Hong Kong. Eur J Med Genet 63(12):104062. https://doi.org/10.1016/j.ejmg.2020.104062CrossRefPubMedPubMedCentral

26.

Chung CCY, Wong WHS, Chung BHY (2021) Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics. Orphanet J Rare Dis 16(1):361. https://doi.org/10.1186/s13023-021-01994-zCrossRefPubMedPubMedCentral

27.

Pagella F, Maiorano E, Matti E, Tinelli C, De Silvestri A, Ugolini S, Lizzio R, Olivieri C, Pusateri A, Spinozzi G (2020) FID Score: an effective tool in hereditary haemorrhagic telangiectasia - related epistaxis. Rhinology 58(5):516–521. https://doi.org/10.4193/Rhin20.078. (PMID: 32584331)CrossRefPubMed

28.

Naidoo R, Naidoo K (2021) Prioritising, “already-scarce” intensive care unit resources in the midst of COVID-19: a call for regional triage committees in South Africa. BMC Med Ethics 22(1):28. https://doi.org/10.1186/s12910-021-00596-5CrossRefPubMedPubMedCentral

29.

Sabbà C, Pasculli G, Suppressa P, D’Ovidio F, Lenato GM, Resta F, Assennato G, Guanti G (2006) Life expectancy in patients with hereditary haemorrhagic telangiectasia. QJM 99(5):327–334. https://doi.org/10.1093/qjmed/hcl037CrossRefPubMed

30.

de Gussem EM, Edwards CP, Hosman AE, Westermann CJ, Snijder RJ, Faughnan ME, Mager JJ (2016) Life expextancy of parents with hereditary haemorrhagic telangiectasia. Orphanet J Rare Dis 22(11):46. https://doi.org/10.1186/s13023-016-0427-xCrossRef

31.

Droege F, Thangavelu K, Stuck BA, Stang A, Lang S, Geisthoff U (2018) Life expectancy and comorbidities in patients with hereditary hemorrhagic telangiectasia. Vasc Med 23(4):377–383. https://doi.org/10.1177/1358863X18767761CrossRefPubMed

32.

Pasculli G, Resta F, Guastamacchia E, Di Gennaro L, Suppressa P, Sabbà C (2004) Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease. Qual Life Res 13(10):1715–1723. https://doi.org/10.1007/s11136-004-7865-yCrossRefPubMed

33.

Zarrabeitia R, Fariñas-Álvarez C, Santibáñez M et al (2017) Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT). Health Qual Life Outcomes 15(1):19. https://doi.org/10.1186/s12955-017-0586-zCrossRefPubMedPubMedCentral

34.

Pagella F, Maiorano E, Ugolini S, Lizzio R, Sovardi F, Mirabella R, Nanfito L, Tinelli C, De Silvestri A, Olivieri C, Spinozzi G, Matti E (2021) Epidemiological, clinical and endoscopic features of epistaxis severity and quality of life in hereditary haemorrhagic telangiectasia: a cross-sectional study. Rhinology 59(6):577–584. https://doi.org/10.4193/Rhin21.286CrossRefPubMed

35.

Tao Z, Xu J, Chen W et al (2021) Anemia is associated with severe illness in COVID-19: a retrospective cohort study. J Med Virol 93(3):1478–1488. https://doi.org/10.1002/jmv.26444CrossRefPubMed

Title: Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter study
Authors: Patrizia Suppressa
Eugenia Maiorano
Eleonora Gaetani
Elina Matti
Gennaro Mariano Lenato
Ilaria Serio
Maristella Salvatora Masala
Giulio Cesare Passali
Maria Aguglia
Claudia Crocione
Pietro Luigi Lopalco
Francesca Caneschi
Valeria Musella
Annalisa De Silvestri
Giulia Gambini
Giuseppe Spinozzi
Carlo Sabbà
Fabio Pagella
Publication date: 04-05-2023
Publisher: Springer International Publishing
Keywords: SARS-CoV-2
Epistaxis
COVID-19
Hereditary Hemorrhagic Telangiectasia
Arteriovenous Malformation
Published in: Internal and Emergency Medicine / Issue 4/2023
Print ISSN: 1828-0447
Electronic ISSN: 1970-9366
DOI: https://doi.org/10.1007/s11739-023-03287-8

Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin

Prof. Florian Limbourg

Prof. Anoop Chauhan

Developed by: Springer Medicine

Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

2024 ASCO Annual Meeting

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 4/2023

Controlling nutritional status score predicts 2-year outcomes in elderly patients admitted for acute heart failure

Statin-induced autoimmune myositis: a proposal of an “experience-based” diagnostic algorithm from the analysis of 69 patients

Correction to: Direct oral anticoagulants in patients with a left‑sided bioprosthetic heart valve: a systematic review and meta‑analysis

The role of coronary computed tomography angiography in low- and intermediate-risk patients with chest pain: a paradigm shift in modern cardiology

Emergency department direct discharge compared to short-stay unit admission for selected patients with acute heart failure: analysis of short-term outcomes

Association of appropriateness for ICU admission with resource use, organ support and long-term survival in critically ill cancer patients

Keynote webinar | Spotlight on medication adherence

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

At a glance: The STEP trials