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.

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.

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