Angioedema por deficiência de inibidor da esterase da fracção C1 do complemento – Revisão
Palavras-chave:
Angioedema adquirido, Angioedema hereditário, Deficiência do inibidor da esterase do C1, Cinarizina, ÁlcoolResumo
O angioedema é uma síndroma potencialmente grave, caracterizada por edema recorrente, circunscrito, solitário ou múltiplo,
do tecido subcutâneo e mucosas, envolvendo as extremidades,
face, laringe e tubo digestivo. A bradicinina parece ser o principal
mediador químico dos episódios de angioedema. O angioedema
por defi ciência do inibidor da esterase da fracção C1 do complemento (C1INH) classifi ca-se em dois tipos, hereditário e adquirido,
por sua vez subdivididos em dois subtipos: O angioedema hereditário subtipo 1 – no qual tanto o nível plasmático do C1INH
como a funcionalidade do mesmo no plasma estão diminuídos,
enquanto no subtipo 2 – o nível plasmático do C1INH é normal
ou elevado, mas a função do C1INH está diminuída, por virtude
da síntese de C1INH disfuncional. No angioedema adquirido
subtipo 1 – Existe diminuição funcional da actividade do C1INH,
frequentemente associada a doenças linfoproliferativas, enquanto
o angioedema adquirido subtipo 2 – caracteriza-se pela presença
de autoanticorpos anti-C1INH, muitas vezes monoclonais, mas
em que não se demonstra a associação a doença maligna. As
crises de angioedema são desencadeadas por várias condições.
Baseados num caso de angioedema muito provavelmente adquirido e de apresentação atípica num homem de 49 anos de
idade, respondendo favoravelmente à terapêutica com cinarizina
e abstinência alcoólica, os autores fazem uma revisão concisa
de ambos os tipos de angioedema, referindo os mecanismos
patogénicos, etiologia dos ataques, manifestações clínicas,
diagnóstico diferencial entre ambos os tipos de angioedema
pela quantificação do nível da fracção C1 do complemento, e
modalidades terapêuticas possíveis. A cinarizina foi prescrita
neste doente, devido à presumível doença hepática etanólica,
pela possibilidade de risco de utilização de androgénios neste
tipo de doença hepática. A franca melhoria clínica, imediata e
mantida ao longo de 30 meses, não teve correlação ao nível de
resultados laboratoriais, que é aliás uma situação de ocorrência
relativamente comum.
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Referências
Huston DP, Bressler RB. Urticaria and angioedema. Med Clin N America 1992; 76: 805-840.
Nussberger J, Cugro M, Amstutz C, Cicardi M, Pellacani A, Agostoni A. Plasma bradykinin in angioedema. Lancet 1998; 351-1693-1697.
Davis III AE, Bissler JJ, Aulak KS. Genetic Defects in the C1 Inhibitor Gene. In Eds. Cruse JM, Lewis Jr RE Complement Profiles vol 1. Complement Today. Karger. Basel . Switzerland 1993; 133-150.
Ebo D, Stevens W. Hereditary angioneurotic edema: review of the literature. Acta Clinica Belgica 2000; 55-1: 22-29.
Humbert Ph. Oedéme angio-neurotique héréditaire. Ann Dermatol Venerereol (French) 2002; 129: 85-88.
Oktenli C, Bulucer F, Gurbuz M, Bosoglu E, Oguz Y, Kok B. Observations on oedema formation and resolution in Gleich syndrome: essential role of kidneys in effective arterial blood volume regulation. Am J Nephrology 2001; 21: 154-161.
Markovic SN, Inwards DJ, Frigas EA. Acquired C1 Esterase-Inhibitor Deficiency – Clinical Review. Ann Int Med 2000; 132: 144-150.
Chevaillier A, Arlaud G, Ponard D, Pernollet h, Carrère F, Renier G et al. C1-inhibitor binding monoclonal immunoglobulins in three patients with acquired angioneurotic edema. J Allergy Clin Immunology 1996; 97: 998-1008.
Talavera A, Larraona JL, Ramos JL, Lopez T, Maraver A, Arias J et al. Heraditary angioedema: an independent cause of abdominal pain with ascites. Am J Gastroenterol 1995; 90: 471-474.
Editorial. Treatment of angioedema. BMJ 1979; JUN 16: 1590.
Nancey S, André F, André C, Veyserre-Balter C, Bocassini G, Tucci A, Agostoni A. L’óedeme angioneurotique. Gastroenterol Clin Biol (French) 2001; 25: 896-904.
Cicardi M, Bergamachini L, Marasini B, Bocassini G, Tucci A, Agostoni A. Hereditary angioedema: an appraisal of 104 cases. Am J Med 1982; 284: 2-9.
Donaldson VH, Evans RR – A biochemical abnormality in hereditary angioedema: absence of serum inhibitor of C1-esterase. Am J Med 1963; 31: 37-44.
Bouillet L, Donard D, Dronet C, Dumestre C, Pernollet M, Bonerandi JJ et al. L’Óedema angio-neurotique acquis. Caractéristiques cliniques et biologiques chez 9 patients. La Presse Médicale (French) 2000; 29: 640-644.
Gelfand JA, Boss GR, Conle CL, Reinhart R, Frank MM. Acquired C1 esterase inhibitor deficiency and angioedema: a review. Medicine 1979; 58: 321-328.
Bork K, Koch P. Episodes of severe dyspnea caused by snoring-induced recurrent oedema of the soft palate in hereditary angioedema. J Amer Academ Dermatol 2001; 45: 968-969.
Farkas H, Fekete B, Karáchi I. Association of celiac disease and hereditary angioneurotic edema. Am J Gastroent 2002; 97: 2682-2683.
Farkas H, Fust G, Fekete B, Karáchi I, Varga L. Eradication of Helicobacter pylori and improvement of hereditary angioneurotic oedema. Lancet 2001; 358: 1695-1696.
Farkas H, Gyeney L, Nemesánsky E. Coincidence of hereditary angioedema with Crohn’s disease. Immunol Invest 1999; 28: 43-53.
Brickman CM, Tsoker GC, Balow JE. Immunoregulatory disorders associated with hereditary angioedema I. Clinical manifestations of autoimmune disease. J Allergy Clin Immunolof 1986; 72: 749-757.
Farkas H, Csepregi A, Nemesanszky E, Par A, Gyeney L, Varga L et al. Acquired angioedema associated with chronic hepatitis C. J Allergy Clin Immunol 1999; 103: 711-712.
Rudolph J, Grond M, Scmulling S, Neveling M, Heiss W. Orolingual angioneurotic oedema following therapy of acute ischemic stroke with alteplase. Neurology 2000; 55: 599-600.
Slater EE, Merril DD, Guess HA, Roylance PJ, Cooper WD. Clinical profile of angioedema associated with angiotensin converting-enzyme inhibitor. JAMA 1988; 260: 967-970.
Whaley K, Sim RB, He S. Autoimmune C1-in hibitor deficiency, Clin Exp Immunol 1996; 106: 423-426.
Weiler JM, Stechschulte DJ, Levine HT, Edens RE, Maves KK. Inhaled heparin in the treatment of hereditary angioedema. Complement Inflamm 1991; 8: 240-241.
Donaldson VH, Bissler JJ. C1 inhibitor and their genes: an update. J Lab Clin Med 1992; 119: 330-333.
Sugyama E, Ozawa T, Taki H, Moruyama M, Yamashita N, Kobayashi M. Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: importance for the differential diagnosis of joint swelling. Arthritis Rheumatism 2001: 44: 974-977.
Tosi M. Structural and functional aspects of C1 inhibitor of the gene and protein level: molecular genetics of C1 inhibitor. Immunobiology 1998; 199: 358-365.
Verpy E, Biasotto M, Nrai M, Misiano G, Meo T, Tosi M. Exhaustive mutation scanning of the C1 inhibitor gene reveals new genotype-phenotype correlations in angioedema. Am J Hum Genet 1996; 59: 308-319.
Bork K, Barnstedt SE, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000; 356: 313-317.
Sheffer AL, Austen KF, Rosen FS, Fearon DT. Acquired deficiency of the inhibitor of the first component of the complement: report of five additional cases with commentary on the syndrome. J Allergy Clin Immunol 1985; 75: 640-646.
Cicardi M, Bergamaschini L, Cuzno M, Beretta A, Zingale LC, Colombo M et al. Pathogenetic and clinical aspects of C1 inhibitor deficiency. Immunobiology 1998; 199: 366-376.
Markovic SN, Inwards DJ, Frigas EA. Acquired C1 Esterase-Inhibitor Deficiency – Clinical Review. Ann Int Med 2000; 132: 144-150.
Melamed J, Chester AA, Cicardi M, Rosen FS. The metabolism of C1 inhibitor and C1q in patients with acquired deficiency. J Allergy Clin Immunol 1986; 77: 322-326.
Frémeaux-Bacchi V, rinnepain M-T, Cacoub P, Dragon-Durey M-A, Mouthon L, Blouin J et al. Prevalence of monoclonal gammapathy in patients presenting with acquired angioedema type 2. Am J Med 2002; 113: 194-199.
Wasserfallen J-B, Spaeth P, Guillou L, Pécoud AR. Acquired deficiency in C1-inhibitor associated with signet ring cell gastric adenocarcinoma: a probable connection of antitumor-associated antibodies, haemolytic anemia, and complement turnover. J Allergy Clin Immunol 1995; 95: 124-131.
Cicardi M, Bisiani G, Cregno M,Spaeth P, Agostoni A. Autoimmune C1 inhibitor deficiency: report of eight patients. Am J Med 1993; 95: 169-175.
Massa MC, Connoly SM. An association between C1 esterase inhibitor deficiency and lupus erythematous: report of two cases and review of the literature. J Am Acad Dermatol 1982; 7: 255-259.
Pasquali J, Christman D, Modert F, Belval PC, Stork D, Hauptmann G. First case of acquired functional C1-INH deficiency; association with angioedema during Churg Strauss vasculitis. Int Arch Allergy Appl Immunol 1984; 74: 284-285.
Pascual M, Widmann JJ,Schifferli JA. Recurrent febrile panniculitis and hepatitis in two patients with acquired complement deficiency and paraproteinemia. Am J Med 1987; 83: 959-962.
Jones RR, Baughan AS, Cream JJ, Levantine A, Whichter JT. Complement abnormalities in diffuse plane xantomatosis with paraproteinemia. Br J Dermatol 1979 ; 101 : 711-716.
Cicardi M, Frangi D, Bergamaschini L, Gardinali M, Saechi G, Agostoni A. Acquired C1 inhibitor deficiency with angioedema symptoms in a patient infected with Echinococcus granulosus. Complement 1985; 2: 133-139.
Jackson J, Sim RB, Whelan A, Feighery C. An IgG antibody which inactivates C1 inhibitor. Nature 1986; 323: 722-724.
Alsenz J, Bork K, Loos M. Autoantibody mediated acquired deficiency of C1 inhibitor. New Engl J Med 1987; 316: 1360-1366.
Mandle R, Baron C, Roux E, Sundel R, Gelfand J, Aulak K et al. Acquired C1 inhibitor deficiency as a result of an autoantibody to the reactive center region of C1 inhibitor. J Immunology 1994; 152: 4680-4685.
Qaseem T, Paterson WD, Jardine GW, Wild G, Ward AM, Large DM. Acquired C1-inhibitor deficiency preceding malignant lymphoma by 7 years. J Royal Soc Med 1991; 84: 628.
Frank M. The “neurotic” oedema: the parent disease in its offspring. Am J Med 2002; 113: 249-251.
Arreaza E, Singh K, Grant JA. Heredirary angioedema: clinical and biochemical heterogeneity. Annals of Allergy 1988; 61: 69-75.
Donaldson VH, Bernstein DI, Wagner CJ, Mitchell BH, Seinte JB, Bernstein IL. Angioneurotic oedema with acquired C1 inhibitir deficiency and autoantibody to C1 inhibitor: response to plasmapheresis and cytotoxic therapy. J Lab Clin Med 1992; 119: 397-406.
Dorosz P, editor. Guide pratique des medicaments 14th ed (French), France. Maloine, 1994: 410.
Guerrero M, Prieto L, Basomba A, Campos A, Peláez A, Villalmanzo IG. Angioedema familiar: (II) Tratamiento. Med Clin (Spanish) 1984; 83: 14-18.
Erill S, Cabezas R, Ausina V. Hereditary angioneurotic edema. Lancet 1974; 1: 169-171.
Ohella K. Treatment of hereditary angioneurotic oedema with tranexamic acid and cinnarizine. Acta Dermat Venereol (Stockholm) 1976; 56: 61-67.
Jackson J, Sim RB, Whaley K, Feighery C. Autoantibody facilitated cleavage of C1 inhibitor in autoimmune angioedema. J Clin Invest 1989; 83: 698-707.
D’ Incan M, Tridon A, Ponard D, Dumestre-Pérard C, Ferrier-Le Bouedec M-C, Bétail G, et al. Acquired angioedema with C1 inhibitor deficiency: is the distinction between type 1 and type 2 still relevant? Dermatology 1999; 199: 227-230
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