Acquired angioedema due to C1 inhibitor deficiency preceding splenic marginal zone lymphoma: further insights from clinical practice
| Autor: | L. Karla Arruda, Mariana Paes Leme Ferriani, Janaina Michelle Lima Melo, Fernando Chahud, Julia S Costa, Orlando Trevisan-Neto, Adriana S. Moreno, Gabriel Carvalho Pereira, Pedro M M Garibaldi, Marina Célia Moraes Dias, Fabiola Traina |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
medicine.diagnostic_test Angioedema business.industry Immunology Physical examination Context (language use) General Medicine medicine.disease LINFOMA Dermatology Immunophenotyping Hereditary angioedema Immunology and Allergy Medicine Histopathology Splenic marginal zone lymphoma medicine.symptom business Rare disease |
| Zdroj: | Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP |
| Popis: | Background: Acquired angioedema due to C1 inhibitor deficiency (AAE-C1-INH) is a very rare disease. In clinical practice, it may be difficult to differentiate AAE-C1-INH from hereditary angioedema due to C1-INH deficiency (HAE-C1-INH). In both conditions, patients are at an increased risk of death from asphyxiation due to upper airway obstruction. The association of AAE-C1-INH with lymphoproliferative and autoimmune diseases, and with presence of anti-C1-INH antibodies has been well documented, and treatment of the underlying condition may result in complete remission of angioedema. Objectives: To discuss the clinical evaluation, diagnosis, and treatment outcomes of AAE-C1-INH in the context of the care of 2 patients with recurrent isolated angioedema. Methods: Two patients were followed up prospectively at our clinic. Measurements of C3, C4, C1-INH, and C1q levels were carried out by nephelometry, and the functional activity of C1-INH was determined by a chromogenic assay. Hematological investigation included morphological and immunophenotyping analysis of peripheral blood, bone marrow, and spleen histopathology. Sequencing of the 8 exons and adjacent intronic regions of the SERPING1 gene was performed using the Sanger method. Results: Two patients were diagnosed with AAE-C1-INH associated with splenic marginal zone lymphoma during follow-up. Conclusions: Close follow-up, including detailed clinical history, physical examination, and laboratory tests, of our patients with AAE-C1-INH was essential for the early diagnosis and successful treatment of the lymphoproliferative disease, leading to the resolution of the angioedema attacks. |
| Databáze: | OpenAIRE |
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