Dessensibilização rápida à idursulfase adaptada para um paciente com Mucopolissacaridose tipo II
Rapid idursulfase desensitization tailored to a patient with mucopolysaccharidosis type II
Pietro Henrique Massuda; Mariana Malucelli; Mara Lucia Schmitz Ferreira Santos; Pedro Giavina-Bianchi; Tsukiyo Kamoi
Resumo
A Mucopolissacaridose tipo II (MPS II), ou Síndrome de Hunter, é uma doença genética rara ligada ao cromossomo X, caracterizada pelo acúmulo de glicosaminoglicanos (GAGs) devido à deficiência da enzima iduronato-2-sulfatase. O tratamento padrão é a terapia de reposição enzimática (TRE) com idursulfase, que, apesar de eficaz, pode provocar reações adversas graves, incluindo anafilaxia. A dessensibilização é uma opção em casos de reações alérgicas graves quando não há terapias substitutas viáveis. Relatamos o caso de menino de 9 anos, com MPS II, que após 2 anos e 9 meses de uso de idursulfase desenvolveu reações alérgicas graves durante as infusões. Testes cutâneos indicaram uma possível reação de hipersensibilidade mediada por IgE. Após várias tentativas de ajuste da infusão e uso de pré-medicações, optou-se pela dessensibilização, utilizando protocolo baseado no descrito pela Profa. Castells. A primeira tentativa foi malsucedida, porém, após modificações no tempo de infusão e uso de pré-medicação adicional, o paciente passou a tolerar a dose completa de idursulfase semanalmente. Reações de hipersensibilidade imediata à idursulfase são comuns, e os testes cutâneos são úteis na identificação de reações mediadas por IgE. A dessensibilização demonstrou ser eficaz neste caso, evitando a suspensão do tratamento. O protocolo foi ajustado conforme a resposta do paciente, destacando a importância de abordagens individualizadas. A dessensibilização à idursulfase é uma alternativa segura e eficaz para pacientes com MPS II que apresentam reações de hipersensibilidade imediata graves à TRE. Este caso contribui para a compreensão da gestão de reações alérgicas no tratamento com idursulfase, incentivando estudos futuros para aprimorar a técnica.
Palavras-chave
Abstract
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked disease characterized by the accumulation of glycosaminoglycans (GAGs) due to deficiency of the enzyme iduronate-2-sulfatase. Standard treatment is enzyme replacement therapy (ERT) with idursulfase, which, although effective, can cause serious adverse reactions, including anaphylaxis. Desensitization is an option in cases of severe allergic reactions when no viable alternative treatment is available. We report the case of a 9-year-old boy with MPS II who, after 2 years and 9 months of idursulfase use, developed severe allergic reactions during infusion. Skin testing indicated a possible IgE-mediated hypersensitivity reaction. After several attempts to adjust the infusion rate and to use premedication, we decided to perform desensitization using a protocol based on that described by Professor Castells. The first attempt was unsuccessful. However, after adjustments to the infusion rate and use of additional premedication, the patient began to tolerate the full dose of idursulfase weekly. Immediate hypersensitivity reactions to idursulfase are common, and skin testing is useful to identify IgE-mediated reactions. Desensitization was effective in this case, avoiding treatment discontinuation. The adjustments were tailored to the patient’s response, highlighting the importance of an individualized approach. Idursulfase desensitization is a safe and effective option for patients with MPS II who experience severe immediate hypersensitivity reactions to ERT. This case contributes to the understanding of the management of allergic reactions during treatment with idursulfase, encouraging future studies to improve the technique.
Keywords
References
1. Suarez-Guerrero JL, Gómez Higuera PJI, Arias Flórez JS, Contreras-García GA. Mucopolysaccharidosis: clinical features, diagnosis and management. Rev Chil Pediatr [Internet]. 2016;87(4):295-304.
2. Nagpal R, Goyal RB, Priyadarshini K, Kashyap S, Sharma M, Sinha R, et al. Mucopolysaccharidosis: A broad review. Indian J Ophthalmol [Internet]. 2022 Jul;70(7):2249-61.
3. Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics [Internet]. 2008 Feb;121(2):e377-86.
4. Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA. Mucopolysaccharidosis type II in females: Case report and review of literature. Pediatr Neurol [Internet]. 2005 Apr;32(4):270-2.
5. Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, et al. Epidemiology of mucopolysaccharidoses. Mol Genet Metab [Internet]. 2017 Jul;121(3):227-40.
6. Hunter C. A Rare Disease in Two Brothers. Proc R Soc Med [Internet]. 1917;10(Sect Study Dis Child):104-16.
7. Pereira EC, Sacomani DG, Motta AAP da. Manifestações clínicas na Mucopolissacaridose do tipo II grave. Rev Neurociências. 2001;19(4):675-80.
8. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) [Internet]. 2011 Dec;50 Suppl 5:v4-12.
9. Pinto LLC, Schwartz IVD, Puga ACS, Vieira TA, Munoz MVR, Giugliani R, et al. Avaliação prospectiva de 11 pacientes Brasileiros com mucopolissacaridose II. J Pediatr (Rio J). 2006;82(4):273-8.
10. Holt JB, Poe MD, Escolar ML. Natural Progression of Neurological Disease in Mucopolysaccharidosis Type II. Pediatrics [Internet]. 2011 May 1;127(5):e1258-e1265.
11. Bradley LA, Haddow HRM, Palomaki GE. Treatment of mucopolysaccharidosis type II (Hunter syndrome): Results from a systematic evidence review. Genet Med. Elsevier Masson SAS; 2017;19(11):1187-201.
12. Prasad VK, Kurtzberg J. Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions. Br J Haematol [Internet]. 2010 Feb;148(3):356-72.
13. D'avanzo F, Rigon L, Zanetti A, Tomanin R. Mucopolysaccharidosis type II: One hundred years of research, diagnosis, and treatment. Int J Mol Sci. 2020;21(4).
14. Clarke LA. Idursulfase for the treatment of mucopolysaccharidosis II. Expert Opin Pharmacother [Internet]. 2008 Feb;9(2):311-7.
15. Giugliani R, Federhen A, Muñoz Rojas MV, Vieira TA, Artigalás O, Pinto LLC, et al. Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros. Rev Assoc Med Bras [Internet]. 2010;56(3):271-7.
16. da Silva EMK, Strufaldi MWL, Andriolo RB, Silva LA. Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). Cochrane Database Syst Rev. 2016;2016(2).
17. Burton BK, Whiteman DAH. Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS). Mol Genet Metab [Internet]. 2011 Jun;103(2):113-20.
18. Wraith JE. Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II. Acta Paediatr Int J Paediatr. 2008;97(SUPPL. 457):76-8.
19. Concolino D, Deodato F, Parini R. Enzyme replacement therapy: Efficacy and limitations. Ital J Pediatr. 2018;44(Suppl 2).
20. Kim J, Park MR, Kim DS, Lee JO, Maeng SH, Cho SY, et al. IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome. Allergy Eur J Allergy Clin Immunol. 2013;68(6):796-802.
21. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med [Internet]. 2006 Aug;8(8):465-73.
22. Giugliani R, Harmatz P, Jones SA, Mendelsohn NJ, Vellodi A, Qiu Y, et al. Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients. Mol Genet Metab reports [Internet]. 2017 Sep;12:2-7.
23. Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, et al. Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008;167(3):267-77.
24. Gragnaniello V, Carraro S, Rubert L, Gueraldi D, Cazzorla C, Massa P, et al. A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature. Mol Genet Metab Reports [Internet]. Elsevier Inc.; 2022;31(April):100878.
25. Cernadas JR, Brockow K, Romano A, Aberer W, Torres MJ, Bircher A, et al. General considerations on rapid desensitization for drug hypersensitivity - A consensus statement. Allergy Eur J Allergy Clin Immunol. 2010;65(11):1357-66.
26. Giavina-Bianchi P, Aun MV, Galvão VR, Castells M. Rapid Desensitization in Immediate Hypersensitivity Reaction to Drugs. Curr Treat Options Allergy. 2015;2(3):268-85.
27. Castells M. Rapid Desensitization for Hypersensitivity Reactions to Medications. Immunol Allergy Clin North Am. 2009;29(3):585-606.
28. Serrano CD, Gomez JF. Successful desensitization to idursulfase in a patient with type II mucopolysaccharidosis (Hunter syndrome). J Investig Allergol Clin Immunol [Internet]. 2011;21(7):571-2.
29. Bustamante LL, Garavaglia L, Garramone EI, Amartino H, Parisi CAS. Idursulfase desensitization in a child with Hunter syndrome (mucopolysaccharidosis II). Arch Argent Pediatr. 2021;119(1):E41-E44.
30. Sengül Emeksiz Z, Büyük Yaytokgil S, Külhas Çelik I, Kasapkara Ç, Dibek Misirlioglu E. Successful Idursulfase Desensitization Experience in a Pediatric Patient. Asthma Allergy Immunol. 2022;20(1):68-70.
31. Spataro F, Viggiani F, Macchia DG, Rollo V, Tummolo A, Suppressa P, et al. Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS). Orphanet J Rare Dis. 2022;17(1):1-11.
Submitted date:
11/05/2024
Accepted date:
11/12/2024
Facebook
Google+
Twitter
LinkedIn
Mendeley
StumbleUpon
CiteULike
Reddit
Email