The Challenges in the follow-Up and treatment of Brazilian children with hereditary angioedema
| Autor: | Luis Felipe Ensina, Herberto José Chong-Neto, Rozana Fátima Gonçalves, Adriana S. Moreno, Almerinda Maria Rêgo-Silva, Pedro Giavina-Bianchi, João Bosco Pesquero, Janaíra Fernandes Ferreira, Jane da Silva, Sandra Mitie Ueda Palma, Faradiba Sarquis Serpa, Solange Rodrigues Valle, Eli Mansour, Sérgio Duarte Dortas, Camila Lopes Veronez, Eliana de Toledo, Ekaterine S. Goudouris, Anete Sevciovic Grumach, Regis A. Campos, Rosario Filho Nelson, Joanna Araújo-Simões, Maria Luiza Oliva Alonso, Priscila Takejima, Mayara Madruga Marques, Fernanda Gontijo Minafra, Mariana Paes Leme Ferriani, Pérsio Roxo Júnior, Jorge Pinto, Luisa Karla de Paula Arruda, Rosemeire Navickas Constantino-Silva, I. Moreira, Aline Gisele Pena Boanova, Nyla Thyara Melo Lobão Fragnan |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Delayed Diagnosis Adolescent Immunology QUALIDADE DE VIDA Asymptomatic C1-inhibitor chemistry.chemical_compound Icatibant Immunology and Allergy Medicine Humans Public Health Surveillance Family history Child Anaphylaxis biology Angioedema business.industry Angioedemas Hereditary Autosomal dominant trait Disease Management General Medicine medicine.disease chemistry Child Preschool Hereditary angioedema biology.protein Quality of Life Female medicine.symptom business Tranexamic acid Brazil medicine.drug Follow-Up Studies |
| Zdroj: | Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP |
| Popis: | Introduction: Hereditary angioedema (HAE) with C1 inhibitor (C1-INH) deficiency is a rare autosomal dominant disease. Although the first symptoms can appear in childhood, the diagnosis’s delay has a strong impact on the patient’s quality of life. We analyzed clinical and laboratory characteristics and the drug therapy of pediatric patients with HAE in Brazil. Methods: Medical records from 18 reference centers of HAE patients under 18 years of age were evaluated after confirmed diagnosis was performed by quantitative and/or functional C1-INH. Results: A total of 95 participants (51 M:44 F; mean age: 7 years old) out of 17 centers were included; 15 asymptomatic cases were identified through family history and genetic screening. Angioedema attacks affected the extremities (73.5%), gastrointestinal tract (57%), face (50%), lips (42.5%), eyelids (23.7%), genitals (23.7%), upper airways (10%), and tongue (6.3%). Family history was present in 84% of patients, and the mean delay in the diagnosis was 3.9 years. Long-term prophylaxis (51/80) was performed with tranexamic acid (39/80) and androgens (13/80); and short-term prophylaxis (9/80) was performed with tranexamic acid (6/80) and danazol (3/80). On-demand therapy (35/80) was prescribed: icatibant in 7/35, fresh frozen plasma in 16/35, C1-INH plasma-derived in 11/35, and tranexamic acid in 12/35 patients. Conclusions: This is the first study on HAE pediatric patients in Latin America. Clinical manifestations were similar to adults. Drugs such as androgens and tranexamic acid were indicated off-label, probably due to restricted access to specific drugs. Educational programs should address pediatricians to reduce late diagnosis and tailored child therapy. |
| Databáze: | OpenAIRE |
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