[Hereditary angioedema: strange cause of abdominal pain]. / Angioedema hereditario: causa rara de dolor abdominal.

BACKGROUND: Hereditary angioedema is an episodic swelling disorder with autosomal dominant inheritance characterized by sudden attacks of peripheral swelling. Patients also commonly have episodic swelling of the wall of hollow viscera, including the bowel. CLINICAL CASE: We present a 33-year-old previously healthy male with a complaint of acute-onset intense abdominal pain localized in the epigastrium. Pain irradiated to the right lower quadrant and was associated with five episodes of vomiting. Computed tomography showed thickening of the duodenal wall with liquid in the subphrenic space. Complementary laboratory tests showed low C4 complement levels (5.5 mg/dl) and 30% complement C1 inhibitor activity. CONCLUSIONS: Hereditary angioedema is caused by a deficiency (type I) or dysfunction (type II) in complement C1 inhibitor. Abdominal associated with angioedema may manifest as severe acute-onset abdominal pain or as moderately severe chronic recurrent abdominal pain. Two medications are currently FDA-approved for the treatment of these patients.

Antecedentes: el angioedema hereditario es un trastorno inflamatorio episódico, que se hereda de manera autosómica dominante y se caracteriza por episodios de edema periférico. Los pacientes pueden tener edema de la pared de cualquier víscera hueca, incluido el intestino. Caso clínico: se comunica el caso de un paciente masculino de 33 años de edad, sin antecedentes de importancia, con dolor abdominal, localizado en el epigastrio, irradiado al cuadrante inferior derecho, acompañado de 5 vómitos. La tomografía abdominal mostró engrosamiento de la pared de la segunda y tercera porción del duodeno, con infiltración de grasa y líquido libre. Los exámenes de laboratorio mostraron: concentraciones bajas del complemento C4 (5.5 mg/dL) y actividad del inhibidor de C1 del complemento de 30%. Conclusiones: el angioedema hereditario es consecuencia de la deficiencia (tipo I) o disfunción (tipo II) del inhibidor C1 del complemento. El dolor abdominal asociado con angioedema es de inicio súbito, como dolor cólico, recurrente y de intensidad moderada. En la actualidad existen dos medicamentos aprobados por la Food and Drug Administration para el tratamiento de pacientes con esta afección.

There is an increased risk of atherosclerosis in hereditary angioedema.

BACKGROUND: Hereditary angioedema is associated either with a deficiency in the amount or in the function of the C1 inhibitor (C1 INH). OBJECTIVE: In this study the endothelial function of HAE patients was investigated to evaluate the impact of hereditary C1-INH deficiency on atherosclerosis, which has not yet been established before. METHODS: A total of 26 patients (14 female, 12 male. Mean age: 38±13) diagnosed with HAE and 30 healthy controls were enrolled in the study. Measurement of coronary flow reserve (CFR) in the left anterior descending coronary artery was performed using transthoracic doppler harmonic echocardiography at baseline and following dipyridamol infusion. The intima-media thickness (IMT) in the carotid artery was measured using an echocardiographic system equipped with 10 MHz linear transducer (Vingmed System Five). RESULTS: The mean CFR value for the HAE patient group was significantly lower than that of the control group (p<0.001). The mean IMT was not found to be significantly different between the two groups, although it was slightly higher in the HAE patient group. No correlation was found between the CFR and the disease severity scores, nor was it shown between the CFR values and the duration of danazol treatment. CONCLUSION: Our results indicate that there is a microvascular endothelial dysfunction in HAE patients. Although carotid intima media thickness of these patients was not significantly increased, the presence of microvascular endothelial dysfunction might be regarded as an early indicator of a premature atherosclerosis.