Clinical profile and quality of life of Puerto Ricans with hereditary angioedema

The continuing “1000 faces of asthma”

“…10 Another topic frequently addressed in previous issues of the Proceedings as well as in the current issue is hereditary angioedema (HAE), a condition that manifests as episodic swelling, most often resulting from deficiency of C1-inhibitor and associated with dysregulation of the contact activation system. [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25] Currently, there is limited real-world evidence on characteristics of patients with HAE and health-care resource utilization. To help fill this void, Tachdjian et al 26 performed a retrospective cohort study by using data from PharMetrics Plus, an administrative claims data base that includes a large U.S. cohort of adult and pediatric patients who received treatments indicated or used for HAE.…”

Genetics, epigenetics, and allergic disease: A gun loaded by genetics and a trigger pulled by epigenetics

“…In moving on to another rare cutaneous disease, hereditary angioedema (HAE) is an autosomal dominant, genetic disorder associated with C1-inhibitor deficiency, which has been a recurrent topic in the Proceedings due to the recent development of a multitude of novel treatment options. [12][13][14][15][16][17][18][19][20][21][22][23][24] In this issue, Arce-Ayala et al 25 reported on the clinical profile and quality of life displayed by Puerto Rican patients with HAE. Compared with U.S. population norms for quality-oflife measures, in Puerto Rico, patients with HAE manifested significantly lower scores, both in the physical and mental components.…”

“…Compared with U.S. population norms for quality-oflife measures, in Puerto Rico, patients with HAE manifested significantly lower scores, both in the physical and mental components. Arce-Ayala et al 25 have expanded the understanding of the burden of illness attributable to HAE by having demonstrated a substantial and noteworthy decrease in quality of life in patients with HAE and an increase risk for depression associated with the disorder.…”

Diminuição das crises e melhora da qualidade de vida através de um programa de manejo sistemático para pacientes com angioedema hereditário

“…Uma descoberta surpreendente em nosso estudo foi a alta frequência de transtornos psiquiátricos, não poupando as crianças portadoras de AEH. De acordo com outros relatos, os pacientes com AEH frequentemente apresentam doenças psiquiátricas não diagnosticadas que precisavam de tratamento (BOVA et al, 2018;ARCE-AYALA et al, 2019;KUMAN TUNÇEL et al, 2019). Apesar de receber atendimento personalizado, orientação para diminuir a exposição a gatilhos conhecidos de AEH e ajuda com problemas psicológicos, a ansiedade ainda foi um dos principais gatilhos para o avanço das crises durante o período do estudo (BANERJI et al, 2020a).…”

“…Portanto, a doença, associada ao seu aspecto imprevisível e potencialmente fatal, leva frequentemente a ansiedade, depressão, stress ou outros riscos de transtornos mentais com comprometimento marcante da qualidade de vida dos pacientes, além dos familiares acometidos (BANERJI, 2013;LONGHURST;BYGUM, 2016;SAVARESE et al, 2018SAVARESE et al, , 2021ARCE-AYALA et al, 2019;FARKAS, 2019;KUMAN TUNÇEL et al, 2019;LIU et al, 2019;GERMENIS et al, 2020). Pacientes com AEH podem estar dispostos a trocar quase um terço de suas vidas restantes para viverem livres da doença, mesmo entre as crises (AYGÖREN-PÜRSÜN et al, 2016)Deste modo, o AEH afeta profundamente a qualidade de vida de seus portadores, tanto na esfera física, como psicológica e social (CABALLERO; PRIOR, 2017).…”