[Diagnosis of hereditary angioedema after thirty years of clinical manifestations]

Rev Alerg Mex. Jul-Sep 2021;68(3):206-208. doi: 10.29262/ram.v68i3.874.
[Article in Spanish]

Abstract

Introduction: Diagnosis and treatment of hereditary angioedema (HAE) are necessary to improve the quality of life and even the survival of patients.

Case report: A 52-year-old woman with angioedema for 30 years, which affects the face, tongue, and hands. It is asymmetric, with neither pruritus nor urticaria, without response to antihistamines or corticosteroids, with spontaneous resolution in 48 hours to 72 hours; with a family history of angioedema. Normal physical examination between exacerbations. Autoimmune and lymphoproliferative diseases were ruled out. Values of C1q, C4, C1-INH were normal. The diagnosis of HAE type C1-INH normal subtype Unknown was established. The total resolution of the crises was achieved after two months with androgen therapy. Outpatient follow-up has been given for four years and no angioedema crisis has been reported, which is associated with a radical change in the quality of life.

Conclusion: The patient was diagnosed with HAE after 30 years of clinical manifestations, after acquired angioedema was ruled out.

Introducción: El diagnóstico y tratamiento del angioedema hereditario (AEH) son necesarios para mejorar la calidad de vida e incluso la supervivencia de pacientes. Reporte de caso: Mujer de 52 años con angioedema desde hace 30 años, que afecta cara, lengua y manos, asimétrico, sin prurito ni urticaria, sin respuesta a antihistamínicos ni corticoides, resolución espontánea entre las 48 a 72 horas, historia familiar de angioedema. Examen físico normal entre las exacerbaciones. Se descartaron enfermedades autoinmunes, linfoproliferativas. Los valores de C1q, C4, C1-INH fueron normales. Diagnóstico de AEH tipo C1-INH normal subtipo unknown. Tratamiento iniciado con andrógenos: resolución total de las crisis a los dos meses. Seguimiento ambulatorio durante cuatro años, sin crisis de angioedema, asociado con un cambio total en la calidad de vida. Conclusiones: La paciente fue diagnosticada de AEH solo después de 30 años de manifestaciones clínicas, después de descartar angioedema adquirido.

Keywords: Angioedema; Bradykinin; Complement C1; Hereditary angioedema.

Publication types

  • Case Reports

MeSH terms

  • Angioedema* / diagnosis
  • Angioedema* / etiology
  • Angioedemas, Hereditary* / diagnosis
  • Angioedemas, Hereditary* / drug therapy
  • Diagnosis, Differential
  • Female
  • Humans
  • Middle Aged
  • Quality of Life
  • Urticaria*