ETIOLOGY AND TRIGGERING FACTORS
Hayrunnisa Bekis Bozkurt
Ümraniye Training and Research Hospital, Department of Pediatric Immunology and Allergy, İstanbul, Türkiye
Bekis Bozkurt H. Etiology and Triggering Factors. In: Özdemir Ö, editor. Childhood Mastocytosis: New Developments in Diagnosis and Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.45-51.
ABSTRACT
Mastocytosis is defined as the clonal proliferation of mast cells and exists in both systemic and cu- taneous forms. In cases where mast cell accumulation and activity are heightened, and tolerance is reduced due to comorbidities, reactions can become more severe and frequent. The best-known genetic mutations involved in the etiology of mastocytosis are those in the stem cell factor (also known as the c-KIT ligand). There are also cases where the cause remains unidentified, and severe clinical manifes- tations can occur in the presence of specific triggers. These triggers can be categorized into subgroups, including physical-enviromental triggers, specific foods, medications, emotional stress, and hormonal changes. Identifying and avoiding triggers is a key part of managing the condition in these patients.
Keywords: Etiology; Mastocytosis; Child
Kaynak Göster
Referanslar
- Giona F. Pediatric mastocytosis: An update. Mediterr J Hematol Infect Dis. 2021;13(1):1-9. [Crossref] [PubMed] [PMC]
- Leguit RJ, Wang SA, George TI, Tzankov A, Orazi A. The international consensus classification of mastocytosis and related entities. Virchows Archiv. 2023;482(1):99-112. [Crossref] [PubMed]
- Lange M, Hartmann K, Carter MC, Siebenhaar F, Alvarez-Twose I, Torrado I et al. Molecular background, clinical features and management of pediatric mastocytosis: Status 2021. Int J Mol Sci. 2021;22(5):2586. [Crossref] [PubMed] [PMC]
- Hartmann K, Escribano L, Grattan C, et al. Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology. J Allergy Clin Immunol. 2016;137(1):35-45. [Crossref] [PubMed]
- Ferreira S, Fernandes I, Cabral R, Machado S, Lima M, Selores M. Cutaneous manifestations in mastocytosis: Update. Acta Med Port. 2020;33(4): 275-281. [Crossref] [PubMed]
- Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD et al. New Insights into the Pathogenesis ofMastocytosis: Emerging Concepts in Diagnosis and Therapy. Annual Review of Pathology: Mechanisms of Disease. 2023;18(1):361-386. [Crossref] [PubMed]
- Longley BJ, Metcalfe DD, Tharp M, , Wang X, Tyrrell L, Lu SZ et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci U S A. 1999;96(4):1609-1614. [Crossref] [PubMed] [PMC]
- Leguit R, Hebeda K, Kremer M, Van Der Walt J, Gianelli U, Tzankov A, et al. The Spectrum of Aggressive Mastocytosis: A Workshop Report and Literature Review. Pathobiology. 2020;87(1):2-19. [Crossref] [PubMed] [PMC]
- Navarro-Navarro P, Álvarez-Twose I, Pérez-Pons A, Henriques A, Mayado A, García-Montero AC et al. KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes. Allergy: European Journal of Allergy and Clinical Immunology. 2023;78(5):1347-1359. [Crossref] [PubMed]
- Gilreath JA, Tchertanov L, Deininger MW. Novel approaches to treating advanced systemic mastocytosis. Clin Pharmacol. 2019;11:77-92. [Crossref] [PubMed] [PMC]
- Gotlib J. Approach to the Diagnosis and Management of Mastocytosis. The Hematologist. 2013;10(1). [Crossref]
- Schaffer J V. Pediatric Mastocytosis: Recognition and Management. Am J Clin Dermatol. 2021;22(2):205-220. [Crossref] [PubMed]
- van der Weide HY, van Westerloo DJ, van den Bergh WM. Critical care management of systemic mastocytosis: When every wasp is a killer bee. Crit Care. 2015;19(1):1-5. [Crossref] [PubMed] [PMC]
- Torrelo A, Alvarez-Twose I, Escribano L. Childhood mastocytosis. Curr Opin Pediatr. 2012;24(4):480-486. [Crossref] [PubMed]
- Brockow K, Jofer C, Behrendt H, Ring J. Anaphylaxis in patients with mastocytosis: A study on history, clinical features and risk factors in 120 patients. Allergy: European Journal of Allergy and Clinical Immunology. 2008;63(2):226-232. [Crossref] [PubMed]
- Yavuz ST, Sackesen C, Sahiner UM, Buyuktiryaki B, Arik Yilmaz E, Sekerel B et al. Importance of serum basal tryptase levels in children with insect venom allergy. Allergy: European Journal of Allergy and Clinical Immunology. 2013;68(3):386-391. [Crossref] [PubMed]
- Chatain C, Sedillot N, Thomas M, Pernollet M, Bocquet A, Boccon-Gibod I. et al. Fatal hymenoptera venom anaphylaxis by undetected clonal mast cell disorder: A better identification of high risk patients is needed. Revue de Medecine Interne. 2021;42(12):869-874. [Crossref] [PubMed]
- Bonadonna P, Scaffidi L. Hymenoptera Anaphylaxis as a Clonal Mast Cell Disorder. Immunol Allergy Clin North Am. 2018;38(3):455-468. [Crossref] [PubMed]
- Schuler CF, Volertas S, Khokhar D, Yuce H, Chen L, Baser O, et al. Prevalence of mastocytosis and Hymenoptera venom allergy in the United States. Journal of Allergy and Clinical Immunology. 2021;148(5):1316-1323. [Crossref] [PubMed]
- Giannetti MP, Nicoloro-SantaBarbara J, Godwin G, Middlesworth J, Espeland A, Douvas JL, et al. Challenges in Drug and Hymenoptera Venom Hypersensitivity Diagnosis and Management in Mastocytosis. Diagnostics. 2024;14(2):1-13. [Crossref] [PubMed] [PMC]
- Vlieg-Boerstra BJ, van der Heide S, Oude Elberink JNG, Kluin-Nelemans JC, Dubois AEJ. Mastocytosis and adverse reactions to biogenic amines and histamine-releasing foods: What is the evidence? Netherlands Journal of Medicine. 2005;63(7):244-249. [PubMed]
- Kovacova-Hanuskova E, Buday T, Gavliakova S, Plevkova J. Histamine, histamine intoxication and intolerance. Allergol Immunopathol (Madr). 2015;43(5):498-506. [Crossref] [PubMed]
- Russell N, Jennings S, Jennings B, Slee V, Sterling L, Castells M, et al. The Mastocytosis Society Survey on Mast Cell Disorders: Part 2-Patient Clinical Experiences and Beyond. Journal of Allergy and Clinical Immunology: In Practice. 2019;7(4):1157-1165. [Crossref] [PubMed]
- González De Olano D, De La Hoz Caballer B, Núñez López R, Sánchez Muñoz L, Cuevas Agustín M, Diéguez MC, et al. Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: A study of the Spanish network on mastocytosis (REMA). Clinical and Experimental Allergy. 2007;37(10):1547-1555. [Crossref] [PubMed]
- Matito A, Carter M. Cutaneous and systemic mastocytosis in children: A risk factor for anaphylaxis? Curr Allergy Asthma Rep. 2015;15(5):1-9. [Crossref] [PubMed]
- Carter MC, Metcalfe DD, Matito A, Escribano L, Butterfield JH, Schwartz LB, et al. Adverse reactions to drugs and biologics in patients with clonal mast cell disorders: A Work Group Report of the Mast Cells Disorder Committee, American Academy of Allergy, Asthma & Immunology. Journal of Allergy and Clinical Immunology. 2019;143(3):880-893. [Crossref] [PubMed]
- Jarkvist J, Brockow K, Gülen T. Low Frequency of IgE-Mediated Food Hypersensitivity in Mastocytosis. Journal of Allergy and Clinical Immunology: In Practice. 2020;8(9):3093-3101. [Crossref] [PubMed]
- Mori F, Crisafulli G, Bianchi A, Bottau P, Caimmi S, Franceschini F,et al. Drugs and Vaccines Hypersensitivity in Children with Mastocytosis. J Clin Med. 2022;11(11):1-11. [Crossref] [PubMed] [PMC]
- Rama TA, Castells M. Triggers of Anaphylaxis in Mastocytosis Patients: Evidence of the Current Drug-Avoidance Recommendation. Curr Treat Options Allergy. 2023;10(4):442-457. [Crossref]
- Heinze A, Kuemmet TJ, Chiu YE, Galbraith SS. Longitudinal Study of Pediatric Urticaria Pigmentosa. Pediatr Dermatol. 2017;34(2):144-149. [Crossref] [PubMed]
- Sánchez-Matas I, Matito-Bernechea A, Gonzalez de Olano D, Alvarez-Twose I, Sanchez-Munoz L, de la Hoz Caballer B, et al. Prevalence of hypersensitivity reactions to nonsteroidal anti-inflamatory drugs in 212 patients with mastocytosis in Spain. Allergy: European Journal of Allergy and Clinical Immunology. 2009;64:574-575. [Crossref]
- Klein NJ, and Misseldine S. Anesthetic considerations in pediatric mastocytosis: A review. J Anesth. 2013;(4):588-598. [Crossref] [PubMed]
- Hermans MAW, Arends NJT, Gerth van Wijk R, Van Hagen PM, Kluin-Nelemans HC, Elberink HNO, et al. Management around invasive procedures in mastocytosis: An update. Annals of Allergy, Asthma and Immunology. 2017;119(4):304-309. [Crossref] [PubMed]
- Klein NJ, Misseldine S. Anesthetic considerations in pediatric mastocytosis: A review. J Anesth. 2013;27(4):588-598. [Crossref] [PubMed]
- Ahmad N, Evans P, Lloyd-Thomas AR. Anesthesia in children with mastocytosis - A case based review. Paediatr Anaesth. 2009;19(2):97-107. [Crossref] [PubMed]
- Matito A, Morgado JM, Sánchez-López P, et al. Management of Anesthesia in Adult and Pediatric Mastocytosis: A Study of the Spanish Network on Mastocytosis (REMA) Based on 726 Anesthetic Procedures. Int Arch Allergy Immunol. 2015;167(1). [Crossref] [PubMed]
- Zhu CK, Nguyen A, Prosty C,et al. Safety of COVID-19 mRNA vaccination and effects of SARS-CoV-2 infection in children and adults with mast cell disorders. Clin Exp Med. 2023;23(8):4937-4942. [Crossref] [PubMed]
- Lei D, Akin C, Kovalszki A. Management of Mastocytosis in Pregnancy: A Review. Journal of Allergy and Clinical Immunology: In Practice. 2017;5(5):1217-1223. [Crossref] [PubMed]
- Theoharides TC. The impact of psychological stress on mast cells. Annals of Allergy, Asthma and Immunology. 2020;125(4):388-392. [Crossref] [PubMed]
- Gangemi S, Minciullo PL, Magliacane D, et al. Oxidative stress markers are increased in patients with mastocytosis. Allergy: European Journal of Allergy and Clinical Immunology. 2015;70(4):436-442. [Crossref] [PubMed]
- Liezmann C, Klapp B, Peters E. Stress, atopy and allergy. Dermatoendocrinol. 2011;3(1):37-40. [Crossref] [PubMed] [PMC]
- Wright RJ, Cohen RT, Cohen S. The impact of stress on the development and expression of atopy. Curr Opin Allergy Clin Immunol. 2005;5(1):23-29. [Crossref] [PubMed]
- Spolak-Bobryk N, Niedoszytko M, Jassem E, et al. The role of the clinical and psychological symptoms of mastocytosis in the patient's quality of life. Postepy Dermatol Alergol. 2022;39(4):688-696. [Crossref] [PubMed] [PMC]
- Moura DS, Sultan S, Georgin-Lavialle S, et al. Depression in patients with mastocytosis: Prevalence, features and effects of masitinib therapy. PLoS One. 2011;6(10):e26375. [Crossref] [PubMed] [PMC]