A targeted literature review and interviews with key opinion leaders (KOLs) have determined that new prophylactic treatments for hereditary angioedema (HAE) have increased the importance of more broadly assessing symptoms and quality of life in patients with the disease.

The review, published in the Orphanet Journal of Rare Diseases, noted that previously, the focus had been solely on HAE attacks, but now that patients are having longer attack-free periods thanks to new therapies, it is becoming important to assess the patient experience more fully.

“To date, the literature has focused on prodromal symptoms occurring just before swelling, during swelling, and immediately after the swelling subsides,” the authors wrote. “As new prophylactic therapies are introduced, clinicians report observable changes in how their HAE patients experience symptoms—specifically, in terms of symptom type, severity, duration, pattern of occurrence, and frequency of HAE attacks.”

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The fact that the patient experience with HAE is changing raises the question of whether the current tools used to assess symptoms and quality of life are adequate to provide the therapy response information and individualized treatment plans needed for these patients.

In their review and interviews, the research team identified 19 symptoms in HAE, which mostly occurred just before or during an attack. In addition to physical symptoms, emotional symptoms such as sadness, depression, and anxiety were common in the patients’ experience, particularly in terms of anxiety about the next attack and depression due to the decline in quality of life.

The team found that few of the existing HAE assessment tools adequately reflected the current patient experience in terms of symptoms and quality of life. In particular, no instrument reflected the symptoms often preceding an attack: paresthesias, itch, and nausea.

The authors recommend further research into the emotional and physical well-being of patients with HAE both during attacks and during their increasing attack-free periods.   


Jean-Baptiste M, Itzler R, Prusty S, et al. The symptom experience of hereditary angioedema (HAE) patients beyond HAE attacks: literature review and clinician interviews. Orphanet J Rare Dis. Published online June 16, 2022. doi.10.1186/s13023-022-02360-3