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Rare Diseases and COVID-19: How are the Patients?

Dear Editor,

When searching the scientific literature COVID-19-associated syndromes in addition to syndromes middle eastern respiratory syndrome (MERS), severe acute respiratory syndrome (SARS), some cardiovascular syndromes and post intensive care syndrome [1[1] Hendren NS, Drazner MH, Bozkurt B, Cooper LT Jr. Description and proposed management of the acute COVID-19 cardiovascular syndrome. Circulation 2020; 141(23):1903-14. https://doi.org/10.1161/CIRCULATIONAHA.120.047349
https://doi.org/10.1161/CIRCULATIONAHA.1...
,2[2] Stam HJ, Stucki G, Bickenbach J. Covid-19 and Post Intensive Care Syndrome: A Call for Action. J Rehabil Med 2020; 52(4):jrm00044. https://doi.org/10.2340/16501977-2677
https://doi.org/10.2340/16501977-2677...
], we found the syndromes of Guillain-Barré, Miller Fisher, polyneuritis cranialis, Kawasaki, Inflammatory multisystem syndrome, and syndrome of inappropriate antidiuretic hormone secretion [3[3] Caress JB, Castoro RJ, Simmons Z, Scelsa SN, Lewis RA, Ahlawat A, et al. COVID-19 - associated Guillain-Barre Syndrome: the early pandemic experience. Muscle & Nerve 2020; 62(4):485-91. https://doi.org/10.1002/mus.27024
https://doi.org/10.1002/mus.27024...

[4] Jones VG, Mills M, Suarez D, Hogan CA, Yeh D, Segal JB, et al. COVID-19 and Kawasaki Disease: Novel virus and novel case. Hosp Pediatr 2020; 10(6):537-40. https://doi.org/10.1542/hpeds.2020-0123
https://doi.org/10.1542/hpeds.2020-0123...

[5] Labé P, Ly A, Sin C, Nasser M, Chapelon-Fromont E, Ben Saïd P, et al. Erythema multiforme and Kawasaki disease associated with COVID-19 infection in children. J Eur Acad Dermatol Venereol 2020; 34(10):e539-e541. https://doi.org/10.1111/jdv.16666
https://doi.org/10.1111/jdv.16666...

[6] Toubiana J, Poirault C, Corsia A, Bajolle F, Fourgeaud J, Angoulvant F, et al. Kawasaki-like multisystem inflammatory syndrome in children during the covid-19 pandemic in Paris, France: prospective observational study. BMJ 2020; 369:m2094. https://doi.org/10.1136/bmj.m2094
https://doi.org/10.1136/bmj.m2094...

[7] Whittaker E, Bamford A, Kenny J, Kaforou M, Jones CE, Shah P, et al. Clinical characteristics of 58 children with a pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2. JAMA 2020; 324(3):259-69. https://doi.org/10.1001/jama.2020.10369
https://doi.org/10.1001/jama.2020.10369...

[8] Belot A, Antona D, Renolleau S, Javouhey E, Hentgen V, Angoulvant F, et al. SARS-CoV-2-related paediatric inflammatory multisystem syndrome, an epidemiological study, France, 1 March to 17 May 2020. Euro Surveill 2020; 25(22):2001010. https://doi.org/10.2807/1560-7917.ES.2020.25.22.2001010
https://doi.org/10.2807/1560-7917.ES.202...

[9] Capone CA, Subramony A, Sweberg T, Schneider J, Shah S, Rubin L, et al. Characteristics, cardiac involvement, and outcomes of Multisystem Inflammatory Disease of Childhood (MIS-C) associated with SARS-CoV-2 Infection. J Pediatr 2020; 224:141-5. https://doi.org/10.1016/j.jpeds.2020.06.044
https://doi.org/10.1016/j.jpeds.2020.06....

[10] Cheung EW, Zachariah P, Gorelik M, Boneparth A, Kernie SG, Orange JS, et al. Multisystem inflammatory syndrome related to COVID-19 in previously healthy children and adolescents in New York City. JAMA 2020; 324(3):294-6. https://doi.org/10.1001/jama.2020.10374
https://doi.org/10.1001/jama.2020.10374...

[11] Chiotos K, Bassiri H, Behrens EM, Blatz AM, Chang J, Diorio C, et al. Multisystem inflammatory syndrome in children during the coronavirus 2019 pandemic: a case series. J Pediatric Infect Dis Soc 2020; 9(3):393-8. https://doi.org/10.1093/jpids/piaa069
https://doi.org/10.1093/jpids/piaa069...

[12] Dasgupta K, Finch SE. A Case of pediatric multisystem inflammatory syndrome temporally associated with COVID-19 in South Dakota. S D Med 2020; 73(6):246-51.

[13] Davies P, Evans C, Kanthimathinathan HK, Lillie J, Brierley J, Waters G, et al. Intensive care admissions of children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in the UK: a multicentre observational study. Lancet 2020; 4(9):669-77. https://doi.org/10.1016/S2352-4642(20)30215-7
https://doi.org/10.1016/S2352-4642(20)30...

[14] Dufort EM, Koumans EH, Chow EJ, Rosenthal EM, Muse A, Rowlands J, et al. Multisystem inflammatory syndrome in children in New York State. N Engl J Med 2020; 383(4):347-58. https://doi.org/10.1056/NEJMoa2021756
https://doi.org/10.1056/NEJMoa2021756...

[15] Greene AG, Saleh M, Roseman E, Sinert R. Toxic shock-like syndrome and COVID-19: A case report of multisystem inflammatory syndrome in children (MIS-C). Am J Emerg Med 2020; S0735-6757(20)30492-7. https://doi.org/10.1016/j.ajem.2020.05.117
https://doi.org/10.1016/j.ajem.2020.05.1...

[16] Lee PY, Day-Lewis M, Henderson LA, Friedman K, Lo J, Roberts JE, et al. Distinct clinical and immunological features of SARS-COV-2-induced multisystem inflammatory syndrome in children. J Clin Invest 2020; 141113. https://doi.org/10.1172/JCI141113
https://doi.org/10.1172/JCI141113...

[17] Perez-Toledo M, Faustini SE, Jossi SE, Shields AM, Kanthimathinathan HK, Allen JD, et al. Serology confirms SARS-CoV-2 infection in PCR-negative children presenting with Paediatric Inflammatory Multi-System Syndrome. medRxiv Preprint. 2020. https://doi.org/10.1101/2020.06.05.20123117
https://doi.org/10.1101/2020.06.05.20123...

[18] Pouletty M, Borocco C, Ouldali N, Caseris M, Basmaci R, Lachaume N, et al., Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 mimicking Kawasaki disease (Kawa-COVID-19): a multicentre cohort. Ann Rheum Dis 2020; 79(8):999-1006. https://doi.org/10.1136/annrheumdis-2020-217960
https://doi.org/10.1136/annrheumdis-2020...

[19] Ramcharan T, Nolan O, Lai CY, Prabhu N, Krishnamurthy R, Richter AG, et al. Paediatric Inflammatory Multisystem Syndrome: temporally associated with SARS-CoV-2 (PIMS-TS): cardiac features, management and short-term outcomes at a UK tertiary paediatric hospital. Pediatr Cardiol 2020; 1-11. https://doi.org/10.1007/s00246-020-02391-2
https://doi.org/10.1007/s00246-020-02391...

[20] Regev T, Antebi M, Eytan D, Shachor-Meyouhas Y, Ilivitzki A, Aviel YB, et al. Pediatric inflammatory multisystem syndrome with central nervous system involvement and hypocomplementemia following SARS-COV-2 infection. Pediatr Infect Dis J 2020; 39(8):e206-e207. https://doi.org/10.1097/INF.0000000000002804
https://doi.org/10.1097/INF.000000000000...

[21] Rivera-Figueroa EI, Santos R, Simpson S, Garg P. Incomplete Kawasaki disease in a child with Covid-19. Indian Pediatr 2020; 57(7):680-1. https://doi.org/10.1007/s13312-020-1900-0
https://doi.org/10.1007/s13312-020-1900-...

[22] Riollano-Cruz M, Akkoyun E, Briceno-Brito E, Kowalsky S, Rosada R, Sordillo EM, et al. Multisystem Inflammatory Syndrome in Children (MIS-C) related to COVID-19: A New York City experience. J Med Virol 2020. https://doi.org/10.1002/jmv.26224.
https://doi.org/10.1002/jmv.26224...

[23] Sokolovsky S, Soni P, Hoffman T, Kahn P, Scheers-Masters J. COVID-19 associated Kawasaki-like multisystem inflammatory disease in an adult. Am J Emerg Med 2020. https://doi.org/10.1016/j.ajem.2020.06.053.
https://doi.org/10.1016/j.ajem.2020.06.0...

[24] Verdoni L, Mazza A, Gervasoni A, Martelli L, Ruggeri M, Ciuffreda M, et al. An outbreak of severe Kawasaki-like disease at the Italian epicentre of the SARS-CoV-2 epidemic: an observational cohort study. Lancet 2020; 395(10239):1771-8. https://doi.org/10.1016/S0140-6736(20)31103-X
https://doi.org/10.1016/S0140-6736(20)31...

[25] Gutiérrez-Ortiz C, Méndez-Guerrero A, Rodrigo-Rey S, Pedro-Murillo ES, Bermejo-Guerrero L, Gordo-Mañas R, et al. Miller Fisher Syndrome and polyneuritis cranialis in COVID-19. Neurology 2020; 95(5):e601-e605. https://doi.org/10.1212/WNL.0000000000009619
https://doi.org/10.1212/WNL.000000000000...

[26] Fernández-Domínguez J, Ameijide-Sanluis E, García-Cabo C, García-Rodríguez R, Mateos V. Miller-Fisher-like syndrome related to SARS-CoV-2 infection (COVID 19). J Neurol 2020. https://doi.org/10.1007/s00415-020-09912-2
https://doi.org/10.1007/s00415-020-09912...

[27] Lantos JE, Strauss SB, Lin E. COVID-19 - Associated Miller Fisher Syndrome: MRI findings. AJNR Am J Neuroradiol 2020; 41(7):1184-6. https://doi.org/10.3174/ajnr.A6609
https://doi.org/10.3174/ajnr.A6609...

[28] Reyes-Bueno JA, García-Trujillo L, Urbaneja P, Ciano-Petersen NL, Postigo-Pozo MJ, Martínez-Tomás C, et al. Miller-Fisher syndrome after SARS-CoV-2 infection. Eur J Neurol 2020. https://doi.org/10.1111/ene.14383
https://doi.org/10.1111/ene.14383...
-29[29] Yousaf Z, Al-Shokri SD, Al-soub H, Mohamed MFH. COVID-19-associated SIADH: a clue in the times of pandemic! Am J Physiol Endocrinol Metab 2020; 318(6):E882-E885. https://doi.org/10.1152/ajpendo.00178.2020
https://doi.org/10.1152/ajpendo.00178.20...
]. Of these, only Guillain-Barré syndrome and Miller Fisher syndrome, Kawasaki diseases and Inflammatory multisystem syndrome have currently present cranio-facial manifestation (Table 1), but possibly others will become know when the damage of COVID-19 becomes known.

Table 1
Characteristics of the patients with COVID-19-associated syndromes.

Although there is no standardized definition of rare diseases, the classification of rare diseases is closely related to a definition according to point prevalence in the current political and legislative context, and such definitions are based on a prevalence threshold directly or implied. According to the World Health Organization (WOS) and adopted by the Ministry of Health of Brazil, a rare disease affects up to 65 per 100,000 individuals [30[30] Martelli DRB, Martelli Júnior H. Undiagnosed and rare diseases: current challenges, perspectives and contribution of oral cavity examination. Oral Surg Oral Med Oral Pathol Oral Radiol 2020; 130(2):227-8. https://doi.org/10.1016/j.oooo.2020.04.011
https://doi.org/10.1016/j.oooo.2020.04.0...
]. Each rare disease, taken separately, affects a limited number of people. Considering, however, that there are up to 8,000 types of rare diseases worldwide, when grouped under a single category, their epidemiological impact may become quite significant. About 80% of those are caused by genetic factors, and the rest by other factors, such as environmental, infectious and immunologicalones [31[31] Ramalle-Gómara E, Ruiz E, Quinones C, Andres S, Iruzubieta J, Gil-de-Gómez J. General knowledge and opinion of future health care and non-health care professionals on rare diseases. J Eval Clin Pract 2015; 21(2):198-201. https://doi.org/10.1111/jep.12281
https://doi.org/10.1111/jep.12281...
]. Thus, rare diseases are a global challenge that must be overcome. A multi-professional and interdisciplinary team, including pediatric dentistry, oral medicine and pathology, is essential for success throughout the process.

Approaches involving rare diseases have been a constant concern by WHO. On 21 February 2019 - Nata Menabde, Executive Director, WHO office at the United Nations moderated a session to commemorate Rare Diseases Day. She highlighted the importance of including efficient and equitable health care systems in order to reduce inequalities to ensure no one is left behind, including persons with rare diseases, as we strive to achieve the 2030 Agenda for Sustainable Development (https://www.who.int/news-room/feature-stories/detail/rare-diseases).

Wakap et al. [32[32] Wakap SN, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 2020; 28:165-73. https://doi.org/10.1038/s41431-019-0508-0
https://doi.org/10.1038/s41431-019-0508-...
] found that the evidence-based population prevalence estimate of 3.5-5.9%, which is equivalent to 263-446 million people affected globally at any point in time, is still conservative. Many of these diseases still have limited understanding of their pathogenesis and/or limited efforts towards targeted therapy development. Due to the unusual existence of such diseases, it remains a long-recognized challenge for physicians, scientists and patient advocacy organizations to convince government agencies and businesses to provide the requisite funding to research them and to establish efficient and accessible therapies [32[32] Wakap SN, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 2020; 28:165-73. https://doi.org/10.1038/s41431-019-0508-0
https://doi.org/10.1038/s41431-019-0508-...
].

In this period of pandemic, with the numerous limitations and performance of health services, particularly dental clinics, oral medicine services and clinical genetics, we have a reflection and concern about these millions of patients with rare diseases and how they are being systematically monitored. Successful experiences have been presented with actions directed to patients and professionals remotely in three main lines: (1) care and treatment aspects directly related to rare diseases; (2) psychological aspects that the emergency itself produces or amplifies; and (3) social and legal aspects that influence the life of the individual concerned at work and in relationships [33[33] Brizola E, Adami G, Baroncelli GI, Bedeschi MF, Berardi P, Boero S, et al. Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic. Orphanet J Rare Dis 2020; 15(1):228. https://doi.org/10.1186/s13023-020-01513-6
https://doi.org/10.1186/s13023-020-01513...

[34] Fiumara A, Lanzafame G, Arena A, Sapuppo A, Raudino F, Pratico A, et al. COVID-19 Pandemic Outbreak and its psychological impact on patients with rare lysosomal diseases. J Clin Med 2020; 9(9):E2716. https://doi.org/10.3390/jcm9092716
https://doi.org/10.3390/jcm9092716...
-35[35] Costamagna G, Abati E, Bresolin N, Comi GP, Corti S. Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic. J Neurol 2020; 1-12. https://doi.org/10.1007/s00415-020-10149-2
https://doi.org/10.1007/s00415-020-10149...
].

Thus, an intense collaboration between services, telemedicine groups and also the opening of communication and monitoring channels for these patients is fundamental, particularly with regard to dentistry.

Acknowledgments

The CAPES (Coordination of Training of Higher Education Graduate Foundation, Brasilia, Brazil), the CNPq (National Council for Scientific and Technological Development, Brazil), and the FAPEMIG (Minas Gerais State Research Foundation, Minas Gerais, Brazil).

References

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Publication Dates

  • Publication in this collection
    02 Apr 2021
  • Date of issue
    2021

History

  • Received
    24 July 2020
  • Reviewed
    29 Sept 2020
  • Accepted
    03 Oct 2020
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