Medical Student Nova Southeastern University sunrise, Florida, United States
Clinical Scenario or Case: We present a 48-year-old male with a history of Epstein-Barr virus and hyperlipidemia who experienced recurrent episodes of angioedema involving the lips, face, throat, hands, feet, and genitalia.
Evidence/Literature Review: Hereditary angioedema (HAE) is a rare disorder characterized by recurrent, non-pitting edema affecting the mucosal, submucosal, or subcutaneous tissues. A rarer subtype, HAE with normal C1 esterase inhibitor (HAE-nC1-INH), is not associated with specific biomarkers.
Unique Aspects of Case: Prior treatments, including corticosteroid injections and oral prednisone, were ineffective. The patient denied any relevant family history and reported symptom exacerbations potentially triggered by stress. Laboratory evaluation included ANA, C1-INH functional and protein levels, C1Q, total complement, rheumatoid factors, SM antibodies, and anti-dsDNA antibodies. The patient was prescribed icatibant for acute flares and berotralstat for prophylaxis.
Recommendations/Conclusions: This case highlights the diagnostic challenges of HAE-nC1-INH, a subtype not responsive to standard treatment with antihistamines or corticosteroids. Although this patient did not experience life-threatening airway compromise, delayed diagnosis of this condition can lead to severe outcomes. Increased awareness of HAE-nC1-INH among clinicians is essential to improve timely diagnosis and appropriate treatment. This case underscores the importance of differentiating HAE-nC1-INH from other forms of angioedema to prevent misdiagnosis.
