Angioedema hereditario en Medellín, Colombia: evaluación clínica y de la calidad de vida / Hereditary angioedema in Medellín (Colombia): Clinical evaluation and quality of life appraisal

Introducción. El angioedema hereditario es una inmunodeficiencia primaria de carácter autosómico dominante, debida a un déficit en la proteína inhibidora del factor C1 y caracterizada por episodios recurrentes de edema subcutáneo y de las mucosas. Las impredecibles y frecuentes crisis de angioedema afectan la calidad de vida de los individuos que las padecen. Objetivo. Analizar las características clínicas de una familia con un caso índice de angioedema hereditario y determinar el impacto de la enfermedad en la calidad de vida. Materiales y métodos. En el estudio se incluyeron 26 miembros de la familia, a 25 de los cuales se les midieron los niveles sanguíneos del factor C4 del complemento y del inhibidor de C1 antigénico y funcional. Se utilizaron dos instrumentos, el SF-36 para evaluar la salud del adulto y el KIDSCREEN-27 para la calidad de vida de niños y adolescentes. Resultados. El 83 % de los individuos que reportaron síntomas cumplían con los criterios serológicos del angioedema hereditario de tipo I: valores bajos del factor C4 del complemento y del inhibidor de C1 cuantitativo (antigénico) y cualitativo (funcional). Se encontró que la calidad de vida en cuanto al bienestar psicológico y el desempeño emocional de los pacientes, se veía considerablemente afectada por los síntomas de la enfermedad. Conclusión. Este estudio provee información sobre la primera familia caracterizada con angioedema hereditario de tipo 1 en el Valle de Aburrá, Colombia. Aunque para ello se usó un instrumento genérico, se confirmó, además, el efecto negativo de la enfermedad en la calidad de vida de los individuos que la padecen.

Introduction: Hereditary angioedema is an autosomal dominant primary immunodeficiency caused by a deficiency of the C1 inhibitor protein and characterized by recurrent episodes of subcutaneous and mucosal edema. Unpredictable and frequent crisis of angioedema affect the quality of life of individuals suffering this kind of disorder. Objective: To analyze the clinical characteristics of a family with an index case of hereditary angioedema and to determine the impact of this disease on their quality of life. Materials and methods: Twenty six members of the family were included in the trial; 25 of them were analyzed for C4 complement and antigenic and functional C1 inhibitor blood levels. Two instruments (SF-365 and KIDSCREEN-27) were used to evaluate adult health quality and children and teenagers quality of life, respectively. Results: Eighty three percent (83%) of individuals reporting symptoms of the condition exhibited serological criteria of hereditary angioedema type I: low levels of both C4 complement and quantitative (antigenic) and qualitative (functional) C1 inhibitor. In relation to patients' psychological and emotional performance, their quality of life was significantly affected by the symptoms of hereditary angioedema. Conclusion: This study provides evidence of the first family in Valle de Aburrá (Colombia) characterized as having hereditary angioedema type I. Despite the use of a generic instrument, the negative impact on the quality of life of individuals suffering this disease was also confirmed.

One case of hereditary angioneurotic laryngeal edema / 临床耳鼻咽喉头颈外科杂志

Hereditary angioneurotic laryngeal edema (HALE) is an autosomal dominant hereditary disease in which there is a decrease or defect in the C1 inhibitor (C1-INH). The pathophysiology of HALE is characterized by recurrent spontaneous episodes of transient edema of the laryngeal mucose and submucosal tissue with remission at irregular. Patients may die because of a life-threatening acute upper airway obstruction caused by laryngeal edema. HALE was diagnosed on the clinical symptoms, family history, and markedly decreased serum C1-INH activity and C1-INH protein.

Hereditary angioedema: a Taiwanese family with a novel gene mutation.

Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a deficiency of C1 esterase inhibitor (C1-INH). Affected individuals have attacks of swelling involving almost any part of the body. We studied a family with 15 living members, including a 16-year-old girl who had 3 attacks of angioedema in 2 years. Her paternal uncle had died of asphyxiation during an attack 15 years previously. We analyzed the blood of each family member for C3, C4, and C1-INH levels and sequenced the SERPING1 (formerly C1NH) gene that codes for C1-INH. Six individuals had decreased serum levels of C4 and C1-INH, and they were all found to have a single nucleotide A deletion at codon 210 of the gene, 1210fsX210, a novel mutation that accounts for the HAE in this family.

Angioedema and systemic lupus erythematosus--a complementary association?

<p><b>INTRODUCTION</b>We report angioedema as a rare presentation leading to a diagnosis of systemic lupus erythematosus (SLE).</p><p><b>CLINICAL PICTURE</b>A diagnosis of angioedema was delayed in a patient presenting with limb and facial swelling until she developed acute upper airway compromise. After excluding allergic and hereditary angioedema, acquired angioedema (AAE) was suspected, possibly precipitated by respiratory tract infection. Associated clinical and laboratory features led to a diagnosis of SLE.</p><p><b>TREATMENT</b>Management proved challenging and included high dose steroids and immunosuppressants.</p><p><b>OUTCOME</b>The patient responded to treatment and remains in remission without recurrence of the angioedema.</p><p><b>CONCLUSION</b>AAE occurs due to the acquired deficiency of inhibitor of C1 component of complement (C1 INH). Lymphoproliferative disorders and anti-C1 INH antibodies are well-described associations. However, one should also consider the possibility of SLE.</p>

Angioedema hereditário: intervenções iatrogênicas - Caso clínico comentado / Hereditary angioedema: iatrogenic interventions

Objetivo: Apresentar o caso clínico de um paciente com dor abdominal recorrente submetido a quatro intervenções cirúrgicas no período de cinco meses. Descrição: Paciente masculino, 31anos, com história de dor abdominal recorrente desde os sete anos de idade que motivou diversos atendimentos em serviço de emergência. Nos cinco meses que antecederam a consulta em nosso serviço foi submetido a quatro laparotomias exploradoras sem conclusão diagnóstica, além de referir emagrecimento de 30 kg. Foram dosadas as concentrações séricas do inibidor de C1 esterase (C1-INH) e do quarto componente do complemento (C4), e ambas estavam reduzidas. Iniciado tratamento com hormônio androgênio atenuado, houve melhora clínica, e atualmente está assintomático.Comentários: Trata-se de um caso de angioedema hereditário (AEH) com predomínio de manifestações gastrintestinais. O retardo no diagnóstico provocou a realização desnecessária de quatro intervenções cirúrgicas, que resultaram em desnutrição e perda de qualidade de vida. O AEH deve ser incluído entre os diagnósticos diferenciais de dor abdominal recorrente com o objetivo de evitar intervenções cirúrgicas iatrogênicas nestes pacientes.

Angioedema hereditário: considerações sobre terapia / Therapeutic approach of hereditary angioedema

OBJETIVOS: A primeira descrição clínica completa do angioedema hereditário (HAE) foi relatada por William Osler, em 1888. As formas de angioedema com deficiência de C1-INH são divididas em hereditárias e adquiridas. A terapêutica pode ser direcionada aos ataques agudos ou profilaxia de novos episódios. O tratamento de escolha é feito através de hormônios masculinizantes, podendo também ser indicado os inibidores da ativação do cininogênio e do plasminogênio como o ácido tranexâmico ou o ácido e-aminocapróico e a reposição de concentrado de C1-INH. O presente estudo relata a evolução de 10 pacientes (quatro famílias) acometidos por HAE e as peculiaridades do tratamento utilizado em cada caso. MÉTODOS: Dez pacientes (1-38 anos) com HAE foram diagnosticados através de história clínica e exames laboratoriais. Os testes realizados para avaliação do sistema complemento foram: dosagem sérica de C1-INH, C4 e C3 e ensaio hemolítico (CH50 e APH50) para as vias clássica e alternativa. O tratamento foi indicado de acordo com a gravidade dos sintomas, idade, sexo e resposta terapêutica. RESULTADOS: A avaliação clínica evidenciou 4/10 pacientes com edema subcutâneo recorrente; 3/10 pacientes com edema de laringe prévio e 3/10 pacientes com sintomas esporádicos. Sintomas de gravidade diferentes foram evidenciados na mesma família. A avaliação laboratorial (dosagem sérica) demonstrou: níveis de C1-INH diminuídos em 10/10; níveis diminuídos de C4 8/10; níveis indetectáveis de CH50 em 3/10 e diminuídos em 6/10; níveis diminuídos de APH50 em 2/10. 6/10 pacientes não receberam tratamento específico, sendo que dois deles apresentam alto risco para asfixia; uma adolescente tem sido controlada com ácido e-aminocapróico, uma criança que fazia uso de danazol passou a receber ácido tranexâmico, uma paciente de 30 anos recebe oxandrolona e um homem de 38 anos está em tratamento com danazol. CONCLUSAO: Apesar do HAE ser causado pelo mesmo defeito e acometer membros da mesma família, diferentes critérios têm sido estabelecidos para o tratamento desses pacientes. Foram indicados diferentes esquemas terapêuticos para HAE e alguns dos pacientes puderam ser seguidos sem terapia medicamentosa.

Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema / 中国医学科学院学报

<p><b>OBJECTIVE</b>To identify the mutation of C1 inhibitor (C1 INH) gene in a Chinese family with hereditary angioedema (HAE).</p><p><b>METHODS</b>Polymerase chain reaction and direct sequencing were used to identify the mutation type. The sequencing results were compared with the normal sequences in GenBank to find the mutation. In order to exclude the polymorphism, 30 normal volunteers were analyzed.</p><p><b>RESULTS</b>One novel mutation (17839 del C) was detected in 5 patients with HAE. The mutation was not found in controls.</p><p><b>CONCLUSION</b>The mutation of C1 INH gene (17839 del C) is identified in the family. Molecular diagnosis can be made by detecting the mutation.</p>

Angioedema hereditário: quantos diagnósticos foram perdidos? / Hereditary angiodema: how many diagnosis were lost?

Objetivo: Apresentar uma imunodeficiência rara, o angioedema hereditário, descrita em cerca de 2 (per cent) dos pacientes com angioedema. A herança é autossômica dominante e quando não tratada pode causar óbito em 25 (per cent) dos pacientes. Método: Levantamento bibliográfico sobre os aspectos do angioedema hereditário, comentando-se em particular o caso de uma paciente e a demora de seu diagnóstico. Resultado: O diagnóstico da doença geralmente ocorre após os 30 anos de idade, devido as crises serem mais intensas e freqüentes. Conclusão: O angioedema hereditário deve ser considerado desde cedo no diagnóstico diferencial do angioedema, para propiciar controle do quadro clínico, diminuição das complicações da doença e melhor qualidade de vida ao paciente.

Hereditary angioedema with recurrent abdominal pain.

Hereditary angioedema is a rare disorder characterized by quantitative or qualitative deficiency of complement C1 esterase inhibitor. We report a family whose members presented with recurrent angioedema and abdominal pain; the diagnosis was confirmed by quantitative assay of C1 inhibitor. The index patient was treated with danazol and was relieved.

A case of Hereditary Angioedema Associated with Idiopathic Hypoparathyroidism

Hereditary angioedema is a rare autosomal dominant disease characterized by the edema of subcutaneous tissues, respiratory tract and bowel. It is caused by the deficiency of C1 esterase inhibitor. Hereditary angioedema may be associated with autoimmune diseases, such as systemic lupus erythematosus, rheumatoid arthritis, autoimmune thyroiditis and glomerulonephritis. We report a 34-year-old male patient with hereditary angioedema who developed idiopathic hypoparathyroidism. Autoimmunity seems to be an important basis of this association and it might be caused by the immune dysfunction due to decreased level of complements; nevertheless, a casual association could not be excluded. To our knowledge, this is the first report of hereditary angioedema in association with idiopathic hypoparathyroidism in the medical literature.

Studies on the components of the contact phase system in patients with acute nonlymphoblastic leukemia

The objective of the present study was to evaluate factors of the plasma kallikrein system in patients with acute nonlymphoblastic leukemia (ANLL), and compare the results to a normal control group. A prospective study was performed in the Tertiary Health Care Institution, Hemocentro, Campinas State University, Campinas, Sao Paulo, Brazil. Thirty-five patients, diagnosed as ANLL between 1988 and 1991, were considered for participation. Eleven patients were not elegible, according to the exclusion criteria: infection/septicemia, previous treatment of blood transfusion. The study was performed with 24 ANLL patients, average age 34 years (16-69 years), 14 men and 10 women. Nineteen healthy volunteers, workers from the Hematology Center, average age 32 years (21-59 years), 11 men and 8 women, were the control group. Plasmatic prekallikrein, C1-inhibitor, alpha 2-macroglobulin, activated partial thromboplastin time, prothrombin time, factor XII, factor XI, factor V and prealbumin were measured. Plasmatic prekallikrein (p=0.02) and prealbumin (p=0.03) were significantly decreased, and prothrombin time increased (p=0.003) in the patient group when compared to the control. Significant correlation (r=0.49, critical value=0.43, p<0.05) between prekallikrein and prealbumin, and between prothrombin time and factor V (r=0.54, critical value=0.44, p<0.05) was demonstrated in the patient group. No correlation was found between parameters analysed and circulant blast count or leukemia subgroups. Statistical analysis was performed by the Willcoxon test. Correlation between the parameters was also verified. These results suggest activation of the contact system or impaired liver synthesis in patients with ANLL, and could contribute to disease complications.

Angioedema hereditario y antígenos de histocompatibilidad: caso clínico / Hereditary angioedema and histocompatibility antigens: a case report

Describimos el caso de un paciente del sexo masculino de 19 años de edad con diagnóstico de angioedema hereditario (AN) a quien le realizamos estudios inmunológicos, como son: dosificación de inmunoglobulinas, complemento, identificación de alergenos o rasgos de autoinmunidad, encontrando asociación con los antígenos de histocompatibilidad DRI, DR4. Se comenta el hallazgo

O diagnóstico diferencial da urticária e angioedema no lúpus eritematoso sistêmico / Diferential diagnosis of urticaria and angioedema in systemic lupus erythematosus

A urticária e o angioedema podem estar associados a doenças auto-imunes, principalmente às colagenoses, entre elas destaca-se o lúpus eritematoso (sistêmico e discóide). É imprescindível documentar nesta associaçao a possível existência de vasculite urticariforme, através de biópsias cutâneas de lesoes, que perdurem por mais de 48 horas. A vasculite urticariforme pode estar acompanhada de hipocomplementemia (síndrome HUVS). Recentemente foram descritos casos de lúpus eritematoso sistêmico acompanhados da deficiência funcional (qualitativa) do inibidor de C1 esterase. Pode ocorer auto-anticorpogênese antiporçao de combinaçao ativa de C1s na molécula deste inibidor. Discute-se o diagnóstico diferencial e a terapêutica da associaçao da urticária e/ou angioedema com o lúpus eritematoso sistêmico.

Período intermedio de la enfermedad de chagas / Intermediate period in chagas diseases

Participes de la idea de que la Patología y evolución de la Enfermedad de Chagas son hechos complejos y admiten hipotesis de factores múltiples, después de tener evidencias por los trabajos analizados del denominado Período Intermedio se podría inferir: 1.- Sólo con Serología (+), ECG y Teleradiografía normales parece incompleto hoy rotular a pacientes en este Período. Se deberá incluir al menos un estudio Holter, un Ecocardiograma y una prueba de Denervación del SNA. 2.- El pronóstico de un paciente determinado en este Período no puede efectuarse sólo en el marco de una fórmula única y de alcance general: el infectado es muy probable que desarrolle en el tiempo manifestaciones orgánicas. si evolucionan podemos asumir que esas manifestaciones son preclínicas. Si no lo hacen, son subclínicas. 3.- La posibilidad de una prueba debiera excluirlos del grupo de Período Intermedio y quizás formar un subgrupo aparte o integrar ya los lesionados crónicos. 4.- Todas estas incógnitas, no son suficientemente develadas, exigen nuevos trabajos prospectivos y cooperativos

Thrombin-antithrombin activity and C1-inactivator in type I diabetics

Previous studies on Diabetes mellitus Type 1 ended in a controversy as to whether there was an increased or decreased fibrinolysis. Also whether fibrinolysis if present was primary or secondary to a hypercoagulable state. The results of screening tests of fibrinolysis are frequently indecisive. C[1]-Inactivator [C[1]-1] [%] as inhibitor of fibrinolysis and thrombin anti-throbmin [TA T] [ug/ml] complex as a sensitive index of the coagulation cascade were determined in 41 male patients with type I diabetes mellitus without complications and in 25 patients of the same disease with microvascular complications [retinopathy, nephropathy and/or neuropathy]. The effect of duration of the disease and the response of the disease to control, were studied. In spite of the fact that screening results of fibrinolysis were not decisive, C[1] -1 and TA T were specific and indicative. TA T was higher in complicated cases [m 9.7 +/- 2.1 SD] than in non-complicated ones [m 5.6 +/- 2.7 SD]; and in uncontrolled complicated cases [m 11.3 +/- 3.0 SD] than in controlled ones [m 9.7 +/- 2.1 SD]. The effect of control was evident also in non-complicated cases where TAT was higher in uncontrolled [m 6.2 +/- 1.9 SD] versus controlled ones [5.6 +/- 2.7 SD]. The longer the duration of the disease the higher the level of TA T, where it was [m 7.2 +/- 2.1 SD] in 1-2 yrs duration and reached m 10.2 +/- 3.1 SD in 5-9 yrs duration. C[1]-l was also higher in complicated diabetes [m 118.6. +/- 18.5 SD] than in non-complicated cases [m 107.5 +/- 16.0 SD] and in both complicated uncontrolled cases [116.3 +/- 15.0 SD] than in complicated controlled ones [118.6 +/- 18.5 SD] also in non-complicated uncontrolled cases [m 115.0 +/- 18.8 SD] than in controlled ones [m 107.5 +/- 160 SD]. The results point to an increased rate of fibrinolysis in response to increased hypercoagulable state in type I Diabetes Mellitus and this is more accentuated the longer the duration of the diseases and that both improve on a better control of the disease

Contole do angiodema hereditário com o estanazol / Control of herditary angiodema with stanzol

O angioedema herditário, forma congênita, é uma doença rara autossômica dominante, caracterizada por apresentar episódios de angiodema, localizados ou generalizados, potencialmente fatais, decorrentes da deficiência quantitativa e/ou qualitativa do inibidor de C1-esterase, induzindo a reduçäo ou ausência das fraçöes do complemento sérico C2, C4 e CH50. Apresentamos e discutimos os casos de dois irmäos portadores desta afecçäo, controlados adequadamente (quadros clínicos e imunoquímico) com o androgêno estanazol