INTRODUCTION: There is limited information on patient pathways to hereditary angioedema (HAE) diagnosis within underrepresented racial and ethnic groups. This study aimed to understand the humanistic burden of HAE for these patients.
METHODS: This was a non-interventional, observational, web-based survey informed by qualitative interviews with patients and physicians. Participants were adults of underrepresented racial/ethnic groups in the US, with a self-reported diagnosis of HAE.
RESULTS: Of 994 participants screened, 139 met inclusion criteria and provided consent. The two most selected races/ethnicities were “African American or Black” (33.1%) and “Hispanic, Latin American, Latine, or Latinx” (30.2%). Mean±SD age was 43.2±13.8 years, 23.3±14.1 years at HAE diagnosis, 82.0% were female, and 46.6% had an annual household income <$50,000. First HAE attack preceded HAE diagnosis in 132 patients at mean±SD age 14.9±12.4 years, 116 avoided seeking medical care before diagnosis citing reasons including mild/resolving attacks (50.0%), not taken seriously by healthcare professionals (36.2%), unsure of where to obtain care (28.4%), and feeling frustrated/scared/anxious (25.0%). Of 92 who sought medical care for HAE symptoms, 58.7% experienced barrier(s) to care (Figure). Common misdiagnoses included allergies (41.3%), appendicitis (11.2%), irritable bowel syndrome (13.0%), and other gastrointestinal disorders (13.9%). Most (107/130; 82.3%) responded that their healthcare experiences prior to diagnosis had negatively affected their lives. Referral to a specialist was the most common factor leading to HAE diagnosis (60/136; 44.1%).
CONCLUSION: Survey results from underrepresented racial and ethnic groups highlight the complex journey for these patients before obtaining an accurate diagnosis for HAE.
