BACKGROUND: Hereditary angioedema (HAE) is a rare genetic condition characterized by painful, debilitating attacks of swelling that can affect the internal organs, face, limbs, genitals and/or upper airway. The recurrent and unpredictable nature of attacks can negatively impact patients’ health-related quality of life (QoL). Clinical trials in HAE underrepresent minority patients and there is a risk of underdiagnosis in these populations. This research aims to understand the QoL among patients with HAE within underrepresented racial and ethnic groups.
METHODS: An observational, web-based survey of patients with HAE in the United States was conducted. Patients were eligible if they identified as a member of an underrepresented racial or ethnic group, were ≥18 years of age, had a self-reported diagnosis of HAE Type I/II, resided in the US or US territory of Puerto Rico, could complete a web-based survey in English or Spanish, and provided informed consent. To assess QoL, patients completed the Angioedema Quality of Life Questionnaire (AE-QoL; scores range from 0-100, lower scores indicate better QoL) and the Hospital Anxiety and Depression Scale (HADS; anxiety and depression subscale scores range from 0 to 21, higher scores indice a worse state). Descriptive statistics were reported.
RESULTS: This analysis included 139 patients with HAE from underrepresented racial or ethnic groups (mean±SD age 43.2±13.8 years, 82.0% female). Patients who solely identified as African American/Black (33.1%) or Hispanic/Latin American (30.2%), and those who identified with >1 race or ethnicity (18.7%) were the most common racial/ethnic groups. In the last 4 weeks, patients reported that their HAE had ‘never’ or ‘rarely/occasionally’ restricted their work (38.8% and 45.5%), physical activity (27.6% and 49.3%), leisure time (34.3% and 51.5%), social relations (36.6% and 53.0%), and eating and drinking (36.6% and 50.0%). Mean±SD total AE-QoL score (n=134) was 41.0±23.2 indicating a moderate to large effect on QoL, with fear/shame (48.2±27.6) and fatigue/mood (41.7±26.6) the most negatively impacted domains. AE-QoL domains of nutrition and functioning had scores of 33.9±26.0 and 32.8±26.5, respectively. Patients who had >20 HAE attacks in the past year had a higher mean±SD total AE-QoL score (57.0±17.6) than those who had 6-20 (46.0±19.1) and 0-5 (29.3±21.9). The mean±SD AE-QoL score was highest among patients who identified as ‘Alaska Native, American Indian, or Native American’ (52.9±16.8). The mean±SD HADS anxiety subscale score (n=133) was 8.4±4.3 indicating mild anxiety. However, 51.9% of patients had worrying thoughts going through their mind ‘a great deal’ or ‘a lot of the time’, 32.3% reported feeling tense or wound up ‘most’ or ‘a lot of the time’, 9.0% reported feeling frightened that something awful is about to happen ‘very definitely and fairly badly’ and 36.1% had this feeling ‘but not too badly’. The mean±SD overall HADS depression score was 4.6±3.8 indicating a normal state (no depression), with 57.1% of patients responding that they look forward with enjoyment to things as much as they ever have, 88.0% feeling cheerful sometimes or most of the time, and 74.4% being able to laugh and see the funny side of things as much as they always could.
CONCLUSION: Patients with HAE within underrepresented racial and ethnic groups reported some impact on their daily activities caused by HAE, and a moderate to large impact on their health-related QoL, particularly with regard to fear/shame and fatigue/mood. As expected, higher attack rates were associated with lower QoL. Most patients also reported mild to severe anxiety, but little to no depression. The identification of underrepresented patients in need, and investigating access and care issues in specific populations, can improve patients’ QoL.
