Disease Severity, Activity, Impact, and Control and How to Assess Them in Patients with Hereditary Angioedema

Abstract

Hereditary angioedema (HAE) is a group of rare, potentially life-threatening, and frequently debilitating diseases characterized by recurrent, and often with an unpredictable onset, of swelling attacks. HAE is heterogeneous, with considerable differences between its subtypes, patients, and even within the same patient over time. During the past few years, several new on demand and prophylactic therapies have become available for HAE, allowing for individualized treatment. Therefore, to optimize HAE management, it is important to determine in all patients, the severity of their attacks, their disease activity, its therapeutic control, and its impact on their quality of life. In this manuscript, we review the existing tools to assess these aspects of HAE management, many of which are patient-reported outcome instruments. Also, we outline the current gaps of knowledge and what tools are still missing to allow for a comprehensive assessment of all patients with HAE including children.

Management of patients with hereditary angioedema in Germany: comparison with other countries in the Icatibant Outcome Survey

“…Another limitation is that standardized and validated tools to assess disease activity, impact and control were not used by all patients and not taken into account in this analysis. Instruments such as the angioedema activity score and the Angioedema Quality of Life Questionnaire should be used in future studies to better understand the impact of treatment on the course of HAE and attack features …”

“…Instruments such as the angioedema activity score 23 and the Angioedema Quality of Life Questionnaire 24,25 should be used in future studies to better understand the impact of treatment on the course of HAE and attack features. 26…”

The Natural Course of Hereditary Angioedema in a Chinese Cohort

“…It may be due in part to the imperfect methods of scoring HAE severity. The disease severity is difficult to classify mainly for the changeability of symptoms, interference of subjective perception and no validated biomarkers [38] . And every HAE patient is at a risk for unpredicted laryngeal edema and death by asphyxiation, regardless of past symptoms, making the severity assessment more difficult.…”

Objectivity in rare disease research: A philosophical approach

“…Therefore, this paper will focus on exploring objectivity in the research of chronic, serious, and potentially progressive rare diseases. Similarly, the natural history of the disease in an individual may not correlate with the expected journey-even within an individual, the course of the disease may change unexpectedly (Bygum, Busse, Caballero, & Maurer, 2017;Divino et al, 2016;Vuga et al, 2019;Whicher, Philbin, & Aronson, 2018). The heterogeneity of disease presentation varies not only between diseases but may also vary between individuals with the same disease (as can occur in hereditary angioedema or hemophilia) (Bygum et al, 2011;Carcao, Berg, Ljung, & Mancuso, 2013).…”

“…The heterogeneity of disease presentation varies not only between diseases but may also vary between individuals with the same disease (as can occur in hereditary angioedema or hemophilia) (Bygum et al, 2011;Carcao, Berg, Ljung, & Mancuso, 2013). Similarly, the natural history of the disease in an individual may not correlate with the expected journey-even within an individual, the course of the disease may change unexpectedly (Bygum, Busse, Caballero, & Maurer, 2017;Divino et al, 2016;Vuga et al, 2019;Whicher, Philbin, & Aronson, 2018).…”