The Price of a Life: Unveiling the Struggle of Living With Hereditary Angioedema

Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder causing recurrent swelling. While effective treatments exist, their high cost significantly limits access for many patients. This case report illustrates the severe consequences of this affordability crisis through a detailed account of a 47-year-old male with HAE. The economic burden of HAE is substantial, with studies showing average annual costs ranging from $42,000 to over $360,000, depending on treatment and severity. This significant financial strain affects approximately 76% of HAE patients, who struggle to afford necessary medications. The high cost impacts treatment decisions made by both patients and physicians, often leading to suboptimal management and increased healthcare utilization. This case also uniquely highlights cocaine use as a potential trigger for HAE attacks, a previously undocumented association.

Existing literature extensively documents the financial burden of HAE. Studies by Banerji et al. and others report annual costs ranging from $42,000 to $363,795, largely driven by hospitalizations and long-term management. A significant percentage of patients (76%) report difficulty affording medications. Physicians' treatment choices are often influenced by insurance coverage and cost. These economic pressures force difficult choices for patients and significantly impact their quality of life and access to life-saving therapies. Previous research has documented cocaine-induced angioedema (Quincke's disease), but not in the context of HAE. This case adds to this body of knowledge by suggesting a potential link between cocaine use and HAE episodes.

This study is a case report detailing the experiences of a single 47-year-old male patient with a known history of HAE. The patient presented to the emergency department multiple times over an eight-month period with severe symptoms requiring ICU admission and intubation. The case report describes the patient's symptoms, treatment received (including emergency medical services interventions and hospital care), laboratory results (showing positive urine drug screens for cocaine and cannabinoids, low C4, and initially normal C1 esterase inhibitor activity), and imaging findings (CT scans revealing subcutaneous edema). The report also discusses the patient's social circumstances, including his difficulties accessing and adhering to prescribed medication due to financial constraints and substance use disorder. Data on the patient's medical history, treatment received during multiple hospital visits, and laboratory and imaging results are presented and analyzed to illustrate the impact of medication affordability and cocaine use on the management of HAE.

The 47-year-old male patient experienced recurrent, severe HAE attacks requiring multiple ICU admissions and intubation. His urine drug screens consistently tested positive for cocaine, suggesting a potential trigger for his attacks. Despite qualifying for a county assistance program providing free C1 esterase inhibitor, the patient failed to consistently attend follow-up appointments and receive medication. His repeated hospitalizations demonstrate the life-threatening consequences of inadequate access to and adherence with prescribed HAE medication. The case highlights the substantial economic burden of HAE treatment, the challenges of ensuring patient adherence, and the previously unknown potential for cocaine to trigger HAE attacks. The CT scans revealed significant subcutaneous edema, particularly in the face, but without airway compromise in some instances.

This case highlights several critical issues in HAE management. The high cost of medication is a major barrier to effective treatment, leading to delays in care and potentially life-threatening consequences. The patient's repeated hospitalizations represent a significant financial burden, both for the individual and the healthcare system. The finding that cocaine use might trigger HAE attacks is novel and warrants further investigation. The patient's non-adherence to treatment, likely influenced by both financial barriers and substance use disorder, emphasizes the need for comprehensive support systems for HAE patients. The significant cost of treatment and the challenges of patient adherence highlight the critical need for improved affordability of HAE medications and the development of targeted interventions to address substance use disorders.

This case report underscores the urgent need for improved affordability of HAE medications and increased patient support programs. The high cost of treatment and the challenges of patient adherence, particularly in cases involving substance use disorder, contribute to severe disease complications. The identification of cocaine as a potential HAE trigger warrants further research. Inpatient allergy/immunology evaluation for patients with newly diagnosed HAE or those experiencing multiple acute attacks might be beneficial in reducing the likelihood of treatment delays and improving patient outcomes. Future studies should investigate the prevalence of cocaine-induced HAE and explore strategies to improve medication access and adherence among HAE patients.

This study is a single case report and may not be generalizable to the broader HAE population. The patient's cocaine use and lack of consistent follow-up complicate the interpretation of the findings. Further research is needed to confirm the association between cocaine use and HAE attacks and to develop effective interventions to address both the financial and behavioral challenges faced by HAE patients.