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

Hereditary angioedema (HAE) is a genetic disorder characterized by re-occurring swelling episodes called "attacks," usually in the limbs, face, airways, and intestinal tract. New prophylactic therapies have reduced the frequency of these attacks. This study describes results from a literat...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2022-06, Vol.17 (1), p.1-232, Article 232
Main Authors: Jean-Baptiste, Milenka, Itzler, Robbin, Prusty, Subhransu, Supina, Dylan, Martin, Mona L
Format: Article
Language:English
Subjects:
Angioedema
Angioneurotic edema
Between attack symptoms
C1-INH
Disease prevention
Edema
Evaluation
Genetic disorders
HAE symptoms and impacts
Hereditary angioedema
HRQoL
Interviews
Literature reviews
Medical research
Patients
Quality of life
Rare diseases
Symptomatology
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Summary:Hereditary angioedema (HAE) is a genetic disorder characterized by re-occurring swelling episodes called "attacks," usually in the limbs, face, airways, and intestinal tract. New prophylactic therapies have reduced the frequency of these attacks. This study describes results from a literature review and clinician interviews assessing patient HAE symptom experiences and timing, and then evaluates whether existing patient-reported outcome (PRO) tools adequately reflect this experience. A targeted literature review as well as interviews with key opinion leaders (KOLs), were conducted to capture information about the patient experience and their symptoms. An assessment of various PROs was then conducted to determine how well they each covered HAE symptoms and impacts. Nineteen HAE symptoms were identified. KOLs reported that patients on prophylactic therapy experienced some symptoms indicating an attack was imminent, but then never experienced an attack. The comparison of the different PROs found that the Hereditary Angioedema Patient-Reported Outcome was the instrument that most thoroughly examined the symptoms of patients with HAE. Given the introduction of new prophylactic therapies, further research is needed to determine the effect of being attack-free for longer periods of time on health-related quality of life.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-022-02360-3