Two patients diagnosed with hereditary angioedema in Pinar del Río
DOI:
https://doi.org/10.56294/shp2025352Keywords:
Hereditary angioedema, C1 inhibitor protein, genetics, pathophysiologyAbstract
Introduction: hereditary angioedema (HAE) is a rare autosomal dominant disease that can be fatal if not treated promptly. It is caused by a deficiency in the synthesis of the inhibitory complement C1.
Objective: to describe The clinical presentation, diagnosis, and treatment of two patients with hereditary angioedema in Pinar del Río.
Methods: two patients are reported with a definitive diagnosis of hereditary angioedema treated at the Pepe Portilla Pediatric Hospital from November 2011 to January 2023. The following are included: Classification, family tree, personal and family history, description, laboratory diagnosis, evolution, and treatment of the disease.
Results: the patients presented recurrent episodes of edema in various regions of the body, both spontaneously and due to trauma, affecting the gastrointestinal mucosa with vomiting and diarrhea. Laboratory tests showed a severe decrease in C4 levels. Both received preventive treatment with danazol. Berinert was used in severe attacks in the patient with hereditary angioedema type I. One case showed an absence of family history, suggesting a new mutation; while the other had a family history, demonstrating an autosomal dominant pattern and milder symptoms.
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