Assessment and management of disease burden and quality of life in patients with hereditary angioedema: a consensus report

Abstract

Background Hereditary angioedema (HAE) is a rare disease characterized by unpredictable, potentially life-threatening attacks, resulting in significant physical and emotional burdens for patients and families. To optimize care for patients with HAE, an individualized management plan should be considered in partnership with the physician, requiring comprehensive assessment of the patient’s frequency and severity of attacks, disease burden, and therapeutic control. Although several guidelines and consensus papers have been published concerning the diagnosis and treatment of HAE, there has been limited specific clinical guidance on the assessment of disease burden and quality of life (QoL) in this patient population. Practical guidance is critical in supporting effective long-term clinical management of HAE and improving patient outcomes. The objective of this review is to provide evidence-based guidelines for an individualized assessment of disease burden and QoL in patients with HAE. Methods A consensus meeting was held on February 29, 2020, consisting of 9 HAE experts from the United States and Europe with extensive clinical experience in the treatment of HAE. Consensus statements were developed based on a preliminary literature review and discussions from the consensus meeting. Results Final statements reflect the consensus of the expert panel and include the assessment of attack severity, evaluation of disease burden, and long-term clinical management of HAE caused by C1-esterase inhibitor deficiency. Patient-reported outcome measures for assessing HAE attack severity and frequency are available and valuable tools; however, attack frequency and severity are insufficient markers of disease severity unless they are evaluated in the broader context of the effect on an individual patient’s QoL. QoL assessments should be individualized for each patient and minimally, they should address the interference of HAE with work, school, social, family, and physical activity, along with access to and burden of HAE treatment. Advances in HAE therapies offer the opportunity for comprehensive, individualized treatment plans, allowing patients to achieve minimal attack burden with reduced disease and treatment burden. Conclusion This consensus report builds on existing guidelines by expanding the assessment of disease burden and QoL measures for patients with HAE.

The symptom experience of hereditary angioedema (HAE) patients beyond HAE attacks: literature review and clinician interviews

“…These are areas that may be more meaningful to patients, and possibly more reflective of treatment benefit. With the advent of new HAE prophylactic therapies, patients experience fewer HAE attacks, and the intervals between HAE attacks may increase [13]. These therapies may additionally impact HRQoL and emotional well-being [30].…”

“…Recent consensus reports on the burden of disease indicate that HAE may be associated with significant disease burden, which interferes with a patient's quality of life both during and between attacks [13]. Determining HAE disease burden includes assessing attack frequency and severity, as well as quality of life effects.…”

The Role of Bradykinin Receptors in Hereditary Angioedema Due to C1-Inhibitor Deficiency

“…To estimate the severity and the burden of the disease we followed a consensus report obtained by panel experts. Each patient was interviewed according to the questionnaire presented in Table 2 of the guideline [ 40 ]. Our cohort was stratified from mild to moderate or severe group by the evaluation performed by one experienced allergist managing HAE patients for >20 years.…”

The international WAO/EAACI guideline for the management of hereditary angioedema – The 2021 revision and update

“…Patients with HAE should monitor their disease activity, impact, and control, and this is especially important in patients who use long-term prophylactic treatment (Recommendation 19). 184 , 246 , 277 , 278 , 279 Validated patient-reported outcome measures such as the angioedema activity score (AAS), 192 , 280 the hereditary angioedema activity score (HAE-AS), 186 the angioedema quality of life questionnaire (AE-QoL), 191 , 193 , 281 the hereditary angioedema quality of life questionnaire (HAE-QoL), 187 , 188 and the angioedema control test (AECT) 189 , 190 are available in a wide range of languages and should be used for this purpose 277 , 282 The aims of effective HAE treatment, ie, the absence of attacks, normalization of QoL, and complete control, are best achieved when assessed by appropriate tools.…”

“…Because HAE-1/2 is an unpredictable, painful, and life-threatening condition that can incur a huge stressful burden on patients and their families, an individualized treatment plan should be carefully developed by shared decision making (Recommendation 23). 4 , 176 , 226 , 279 , 340 , 341 , 342 , 343 , 344 , 345 , 346 Individ-ualized treatment plans should address preven-tive measures as well as home care and self-administration. It should include an effective emergency (on-demand) treatment plan, with clear instructions on how to best use medications to treat HAE attacks.…”