The care pathway for children with urticaria, angioedema, mastocytosis

World Allergy Organization Journal

Stefania La Grutta¹  Giovanni Passalacqua³  Giovanni Corsello²  Emilia Adrignola²  Maria Concetta Muscia²  Valeria Scavone²  Giuliana Ferrante² 

[1] Institute of Biomedicine and Molecular Immunology IBIM, National Research Council, Palermo, Italy;Department of Science for Health Promotion and Mother and Child Care, Università di Palermo, Via del Vespro, 133, Palermo, 90127, Italy;Allergy and Respiratory Diseases, Department of Internal Medicine, IRCCS San Martino, University of Genoa, Genoa, Italy

关键词: Clinical practice;    Management;    Diagnosis;    Epidemiology;    Children;    Itch;    Skin;    Mastocytosis;    Angioedema;    Urticaria;   

Others  :  1137517
DOI  :  10.1186/s40413-014-0052-x

 received in 2014-03-25, accepted in 2014-12-11,  发布年份 2015

【 摘 要 】

Cutaneous involvement characterized by urticarial lesions with or without angioedema and itch is commonly observed in routine medical practice. The clinical approach may still remain complex in real life, because several diseases may display similar cutaneous manifestations. Urticaria is a common disease, characterized by the sudden appearance of wheals, with/without angioedema. The term Chronic Urticaria (CU) encompasses a group of conditions with different underlying causes and different mechanisms, but sharing the clinical picture of recurring wheals and/or angioedema for at least 6 weeks. Hereditary Angioedema (HAE) is a rare disorder characterized by recurrent episodes of non-pruritic, non-pitting, subcutaneous or submucosal edema affecting the extremities, face, throat, trunk, genitalia, or bowel, that are referred as “attacks”. HAE is an autosomal dominant disease caused by a deficiency of functional C1 inhibitor, due to a mutation in C1-INH gene (serping 1 gene) characterized by the clonal proliferation of mast cells, leading to their accumulation, and possibly mediator release, in one or more organs. In childhood there are two main forms of mastocytosis, the Systemic and the Cutaneous. The clinical features of skin lesions in urticaria, angioedema and mastocytosis may differ depending on the aetiologic factors, and the underlying pathophysiological mechanisms. The diagnostic process, as stepwise approach in routine clinical practice, is here reviewed for CU, HAE and mastocytosis, resulting in an integrated method for improved management of these cutaneous diseases. Taking into account that usually these conditions have also a relevant impact on the quality of life of children, affecting social activities and behavior, the availability of care pathways could be helpful in disentangle the diagnostic issue achieving the most cost-effective ratio.

【 授权许可】

   
2015 Ferrante et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

Figure 2.

Figure 3.

【 参考文献 】

• [1]Sánchez-Borges M, Asero R, Ansotegui OJ, Baiardini I, Bernstein JA, Canonica JW, et al.: Diagnosis and treatment of urticaria and angioedema: a worldwide perspective. World Allergy Organ J 2012, 5:125-47.
• [2]Greaves MW: Chronic urticarial in childhood. Allergy 2000, 55:309-20.
• [3]Grattan CE, O’Donnell BF, Francis DM, Niimi N, Barlow RJ, Seed PT, et al.: Randomized double-blind study of cyclosporine in chronic “idiopathic” urticarial. Br J Dermatol 2000, 143:365-72.
• [4]Kjaer HF, Eller E, Host A, Andersen KE, Bindslev-Jensen C: The prevelance of allergic diseases in an unselected group of 6-year-old children. The DARC birth cohort study. Pediatr Allergy Immunol 2008, 19:737-45.
• [5]Khakoo G, Sofianou-Katsoulis A, Perkin MR, Lack G: Clinical features and natural history of physical urticaria in children. Pediatr Allergy Immunol 2008, 19:363-6.
• [6]Tuchinda M, Srimaruta N, Habanananda S, Vareenil J, Assatherawatts A: Urticaria in Thai children. Asian Pac J Allergy Immunol 1986, 4:41-5.
• [7]Zuberbier T, Asero R, Bindslev-Jensen C, Canonica WG, Church MK, Giménez-Arnau A, et al.: EAACI/GA(2)LEN/EDF/WAO guideline: definition, classification and diagnosis of urticaria. Allergy 2009, 64:1417-26.
• [8]Novembre E, Cianferoni A, Mori F, Barni S, Calogero C, Bernardini R, et al.: Urticaria and urticaria related skin condition/disease in children. Eur Ann Allergy Clin Immunol 2008, 40:5-13.
• [9]Church MK, Weller K, Stock P, Maurer M: Chronic spontaneous urticaria in children: itching for insight. Pediatr Allergy Immunol 2011, 22:1-8.
• [10]Abajian M, Młynek A, Maurer M: Physical urticaria. Curr Allergy Asthma Rep 2012, 12:281-7.
• [11]Morais-Almeida M, Marinho S, Gaspar A, Arede C, Loureiro V, Rosado-Pinto J: Cold urticaria and infectious mononucleosis in children. Allergol Immunopathol (Madr) 2004, 32:368-71.
• [12]Gandhi C, Healy C, Wanderer AA, Hoffman HM: Familial atypical cold urticaria: description of a new hereditary disease. J Allergy Clin Immunol 2009, 124:1245-50.
• [13]Magerl M, Borzova E, Gimenez-Arnau A, Grattan CE, Lawlor F, Mathelier-Fusade P, et al.: The definition and diagnostic testing of physical and cholinergic urticarias – EAACI/GA2LEN/EDF/UNEV consensus panel recommendations. Allergy 2009, 64:1715-21.
• [14]Povesi Dascola C, Caffarelli C: Exercise-induced anaphylaxis: a clinical view. Ital J Pediatr 2012, 14:38-43.
• [15]Longhurst H, Cicardi M: Hereditary angio-oedema. Lancet 2012, 4:474-81.
• [16]Bork K, Hardt J, Schicketanz KH, Ressel N: Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to C1 esterase inhibitor deficiency. Arch Intern Med 2003, 163:1229-35.
• [17]Bork K, Hardt J, Witzke G: Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency. J Allergy Clin Immunol 2012, 130:692-7.
• [18]Pappalardo E, Cicardi M, Duponchel C, Carugati A, Choquet S, Agostoni A, et al. Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema. J Allergy Clin Immunol. 2000;106:1147–54.
• [19]Floccard B, Hautin E, Bouillet L, Coppere B, Allaouchiche B: An evidence-based review of the potential role of icatibant in the treatment of acute attacks in hereditary angioedema type I and II. Core Evid 2012, 7:105-14.
• [20]Bygum A, Fagerberg CR, Ponard D, Monnier N, Lunardi J, Drouet C: Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. Allergy 2011, 66:76-84.
• [21]Bains SN, Hsieh FH: Current approaches to the diagnosis and treatment of systemic mastocytosis. Ann Allergy Asthma Immunol 2010, 104:1-10.
• [22]Andersen CL, Kristensen TK, Severinsen MT, Møller MB, Vestergaard H, Bergmann OJ, et al.: Systemic mastocytosis - a systematic review. Dan Med J 2012, 59:A4397.
• [23]Lange M, Niedoszytko M, Renke J, Gleń J, Nedoszytko B: Clinical aspects of paediatric mastocytosis: a review of 101 cases. J Eur Acad Dermatol Venereol 2013, 27:97-102.
• [24]Morren MA, Hopp A, Renard M, Rychter MB, Uyttebroeck A, Dubreuil P, et al.: Imatinib mesylate in the treatment of diffuse cutaneous mastocytosis. J Pediatr 2013, 162:205-7.
• [25]Saini S. Chronic urticaria: clinical manifestations, diagnosis, pathogenesis, and natural history. http://www.uptodate.com © 2014 UpToDate ®.
• [26]Bernstein JA, Lang DM, Khan DA, Craig T, Dreyfus D, Hsieh F, et al.: The diagnosis and management of acute and chronic urticaria: 2014 update. J Allergy Clin Immunol 2014, 133:1270-7.
• [27]Buyantseva LV, Sardana N, Craig TJ: Update on treatment of hereditary angioedema. Asian Pac J Allergy Immunol 2012, 30:89-98.
• [28]Valent P, Escribano L, Broesby-Olsen S, Hartmann K, Grattan C, Brockow K, et al. Proposed diagnostic algorithm for patients with suspected mastocytosis: a proposal of the European Competence Network on Mastocytosis. Allergy. 2014;69:1267–74 .
• [29]Van Gysel D, Oranje AP, Vermeiden I, De Lijste de Raadt J, Mulder PG, van Toorenenbergen AW: Value of urinary N-methylhistamine measurements in childhood mastocytosis. J Am Acad Dermatol 1996, 35:556-8.
• [30]Zuberbier T, Asero R, Bindslev-Jensen C, Canonica GW, Church MK, Giménez-Arnau AM, et al.: EAACI/GA(2)LEN/EDF/WAO guideline: management of urticaria. Allergy 2009, 64:1427-43.
• [31]Zuberbier T: Chronic urticaria. Curr Allergy Asthma Rep 2012, 12:267-72.
• [32]Maurer M, Rosén K, Hsieh HJ, Saini S, Grattan C, Gimenéz-Arnau A, et al.: Omalizumab for the treatment of chronic idiopathic or spontaneous urticaria. N Engl J Med 2013, 368:924-35.
• [33]Zuberbier T, Aberer W, Asero R, Bindsley-Jensen C, Brzoza Z, Canonica GW, et al.: The EAACI/GA(2)LEN/EDF/WAO guideline for the definition, classification, diagnosis, and management of urticaria: the 2013 revision and update. Allergy 2014, 69:868-87.
• [34]Cicardi M, Bork K, Caballero T, Craig T, Li HH, Longhurst H, et al.: Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. Allergy 2012, 67:147-57.
• [35]Bowen T: Hereditary angioedema: beyond international consensus. Allergy Asthma Clin Immunol 2011, 10:1-14. BioMed Central Full Text
• [36]Craig TJ, Bewtra AK, Bahna SL, Hurewitz D, Schneider LC, Levy RJ, et al.: C1 esterase inhibitor concentrate in 1085 Hereditary Angioedema attacks-final results of the I.M.P.A.C.T.2 study. Allergy 2011, 66:1604-11.
• [37]Wahn V, Aberer W, Eberl W, Faßhauer M, Kühne T, Kurnik K, et al.: Hereditary angioedema (HAE) in children and adolescents - a consensus on therapeutic strategies. Eur J Pediatr 2012, 171:1339-48.
• [38]Kjær L, Bygum A: Hereditary angioedema in childhood: a challenging diagnosis you cannot afford to miss. Pediatr Dermatol 2013, 30:94-6.
• [39]Schneider L, Hurewitz D, Wasserman R, Obtulowicz K, Machnig T, Moldovan D, et al.: C1 INH concentrate for treatment of acute hereditary angioedema: a pediatric cohort from IMPACT studies. Pediatr Allergy Immunol 2013, 24:54-60.
• [40]Lumry W, Manning ME, Hurewitz DS, Davis-Lorton M, Fitts D, Kalfus IN, et al.: Nanofiltered C1 Esterase inhibitor for the acute management and prevention of hereditary angioedema attacks due to C1 inhibitor deficiency in children. J Pediatr 2013, 162:1017-22.
• [41]Reshef A, Moldovan D, Obtulowicz K, Leibovich I, Mihaly E, Visscher S, et al.: Recombinant human C1 inhibitor for the prophylaxis of hereditary angioedema attacks: a pilot study. Allergy 2013, 68:118-24.
• [42]Heide R, de Waard- van der Spek FB, Den Hollander JC, Tank B, Oranje AP: Efficacy of 25% diluted fluticasone propionate 0.05% cream as wet-wrap treatment in cutaneous mastocytosis. Dermatology 2007, 214:333-5.
• [43]Heide R, Beishuizen A, De Groot H, Den Hollander JC, Van Doormaal JJ, De Monchy JG, et al.: Mastocytosis in children: a protocol for management. Pediatr Dermatol 2008, 25:493-500.