Abbreviations

HAE-->Hereditary Angioedema

SLE-->Systemic Lupus Erythematosus

C1INH-->C1-Estrase Inhibitor

Clinical Implications:

This case history sheds light on how healthcare disparities worldwide delay the diagnosis and affect the management and outcome of HAE with normal C1-estrase level, unknown type.

Case Report:

 A 24-year-old female started to have recurrent episodes of severe angioedema at the age of 12. The attacks occur several times a month. Her condition was misdiagnosed as an allergic disorder, leading to multiple hospital admissions with occasional “near suffocation” episodes. 

The patient also developed SLE at the age of 19, which further complicated her situation. During her pregnancy, she suffered severe and frequent angioedema episodes. Eventually, the patient was able to access a Bradykinin Receptor Blocker as well as human C1-esterase inhibitor, which successfully aborted the severe episodes during labor and the immediate postpartum period. She gave birth to a healthy baby. 

In this case report we address the burden of the disease commonly experienced in similar conditions “The six Ds”: Diagnosis delay, Disruption, Disability, Disappointment, Debt and Death. 

The delay in the diagnosis had a significant impact on the patient’s quality of life. The disease was disruptive, due to its episodic and unpredictable nature, which increased the anxiety and depression experienced, leading to disability. Laryngeal edema may also lead to death.

New therapies have been developed recently. These treatments can significantly decrease the burden of disease. However, the disappointment lies in the unmet expectations for treatment, due to the misdiagnosis and absence of proper medications and other medical resources in our patient’s country. The fact that the medication is not universally available constitutes a major healthcare disparity. Moreover, the direct costs of treatment can reach $500,000 annually which may cause patients to incur large amounts of debt.  

The patient we report on spent at least a decade with no specific diagnosis of her condition due to healthcare disparities. She also did not have access to the appropriate medications until recently. 

To conclude, we report a rare case of HAE and pregnancy. We emphasized how healthcare disparities can significantly affect a patient’s quality of life.