Drug addiction and hereditary angioedema type 1, a dangerous combination

Abstract

Introduction: Hereditary angioedema (HAE) is a rare disease characterized by episodes of cutaneous and submucosal inflammation. Its global prevalence ranges from 1:50,000 to 1:100,000 individuals and is often underdiagnosed. It is classified into three main types based on C1 inhibitor (C1-INH) levels and functionality. Type 1 is the most common (85% of cases). It is characterized by low plasma concentrations of functional C1-INH as a result of mutations in the SERPING1 gene.

Case report: We present the case of a 20-year-old male resident of Guadalajara with HAE type 1 diagnosed at age 12 and a history of drug use. He was admitted with edema in the left posterior thoracic region, which progressed to the neck, causing respiratory distress. During ambulance transport, the patient suffered cardiorespiratory arrest, requiring cardiopulmonary resuscitation. He was administered a bradykinin type 2 receptor antagonist and systemic steroid without success, and was admitted to the emergency department under advanced airway management. Laboratory tests and a CT scan revealed no significant findings. Given the persistence of facial edema, a human C1 esterase inhibitor was administered, and the patient was admitted to the intensive care unit for monitoring.

Conclusion: Based on laboratory and CT results, substance abuse was suspected as a triggering factor. The literature reports that individuals with cocaine dependence present a persistent proinflammatory state characterized by reduced baseline levels of the anti-inflammatory interleukin IL-10 and a significant increase in the proinflammatory cytokine TNF-α after exposure to stressful stimuli or use. Although the evidence in the medical literature is limited, the use of psychoactive substances could act as a triggering factor for seizures in patients with hereditary angioedema type 1. This case underscores the importance of identifying potential less-studied aggravating factors and suggests the need for a targeted history of psychoactive substance use in patients with HAE. This could be explained by their effects on vasodilation, the release of inflammatory mediators, and increased vascular permeability, mechanisms that promote bradykinin accumulation. Given the potential risk, it is essential to consider drug use in the comprehensive evaluation of precipitating factors in these patients.

Keywords: Hereditary angioedema type 1; Drug addiction; Seizures; Selective competitive antagonist of the bradykinin type 2 receptor; Human C1 esterase inhibitor.