ABSTRACT
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.
Subject(s)
Abdominal Pain/etiology , Adult , Angioedema/genetics , Complement C1 Inactivator Proteins/deficiency , Danazol/therapeutic use , Humans , MaleABSTRACT
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.
Subject(s)
Adult , Humans , Male , Angioedema/complications , Complement C1 Inactivator Proteins/deficiency , Hypoparathyroidism/complications , PedigreeABSTRACT
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
Subject(s)
Adult , Humans , Male , Angioedema/diagnosis , Angioedema/physiopathology , Angioedema/therapy , Autoimmune Diseases/diagnosis , Complement C1 Inactivator Proteins/administration & dosage , Complement C1 Inactivator Proteins/deficiency , Histocompatibility AntigensABSTRACT
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.