HEREDITARY ANGIOEDEMA WITH C1 ESTERASE INHIBITOR DEFICIENCY: THE IMPORTANCE OF APPROPRIATE TREATMENT - CASE REPORT

• DOI: https://doi.org/10.22533/at.ed.1594322425032

• Palavras-chave: Hereditary Angioedemas; Angioedema; Complement Inhibitor Protein C1; Hereditary Complement Deficiency Diseases.

• Keywords: Hereditary Angioedemas; Angioedema; Complement Inhibitor Protein C1; Hereditary Complement Deficiency Diseases.

• Abstract:

  Hereditary Angioedema with C1 esterase inhibitor deficiency (HAE-C1-INH) is a rare condition, genetic in nature, autosomal dominant, caused by a mutation in the SERPING1 gene, altering the C1-INH protein. It is characterized by recurrent edema in the subcutaneous and submucosal tissues. It is underdiagnosed due to the non-specificity of symptoms and low incidence. There are several forms of HAE, characterized by the number and function of C1-INH. As a differential diagnosis, there is angioedema due to the use of ACE inhibitors and acquired angioedema. Treatment aims to control acute crises and carry out short and long-term prophylaxis, involving medications and non-pharmacological measures. This is a case report of Hereditary Angioedema with C1 esterase inhibitor deficiency (HAE-C1-INH). Data were collected after the patient's consent, including laboratory test results. The clinical discussion is based on 14 articles selected from the PMC, Scielo and Up to date databases, excluding studies not aligned with the objective and/or prior to 2018. The study is descriptive and exploratory, highlighting characteristics, clinical repercussions, diagnosis and treatment of the HAE-C1-INH. This study presents a case of a female patient, 42 years old, with HAE-C1-INH and Borderline Personality Disorder. The patient had recurrent episodes of edema since childhood, with multiple hospital admissions. The diagnosis was established after years of ineffective treatment for allergic reactions. His family history revealed several affected members. The patient's treatment involves the chronic use of specific medications, with a significant improvement in quality of life and a reduction in episodes of edema. The importance of early diagnostic investigation and appropriate treatment is highlighted to improve the quality of life and prognosis of HAE-C1-INH. The specific therapeutic approach allowed the patient to lead a healthy life, with few episodes of edema and without the need for hospitalization or drastic interventions.