{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T04:51:23Z","timestamp":1782449483294,"version":"3.54.5"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Patients with Hereditary Angioedema related to deficiency in C1-esterase inhibitor (HAE-C1INH) experience a relevant burden of both lifelong disease and treatments. The coexistence of additional comorbidities concurs with the reduction of the quality of life (QoL) often resulting in social-psychological isolation and potential multidimensional frailty. We aimed at assessing for the first time frailty in elderly with HAE-C1INH by using a comprehensive geriatric assessment (CGA).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and methods<\/jats:title>\n                    <jats:p>A single-center cross-sectional comparative study with a control group included elderly patients with a defined diagnosis of HAE-C1INH recruited from the HAE Reference Center (Tor Vergata University Hospital, Rome, Italy). Healthy controls (HC) were enrolled from subjects referring to the Geriatric Unit, at the same Hospital. HAE-C1INH burden was assessed by disease activity (HAE-AS) and quality of life (HAE-QoL). All subjects in the study underwent CGA including Mini Mental State Examination (MMSE), Geriatric Depression Scale (GDS), Activities of Daily Living (ADLs) and Instrumental ADL (IADLs), and the Tinetti test. The comorbidity burden was measured by Charlson Comorbidity Index (CCI) and frailty status by using the Clinical Frailty Scale (CFS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Thirty HAE-C1INH patients from 20 unrelated families were included and compared with age\/sex matched HC (\n                      <jats:italic>n<\/jats:italic>\n                      \u202f=\u202f50). HAE-AS classified disease activity as high in 20% of patients while HAE-QoL was severely impaired in 10% of patients. The CGA documented a similar distribution of MMSE, GDS, IADL, and Tinetti between patients and HC. Comorbidities were similarly represented in both the groups as well as of CCI and CFS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Geriatric score analysis shows that older adults with HAE-C1INH exhibit age-related frailty comparable to general population controls. As the proportion of HAE-C1INH patients achieving the geriatric age threshold is growing, defining disease-specific frailty remains crucial for enhancing care in older adults.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2026.1834045","type":"journal-article","created":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T04:38:55Z","timestamp":1782448735000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Frailty in elderly with a rare genetic disease: a geriatric score analysis in C1 inhibitor Hereditary Angioedema"],"prefix":"10.3389","volume":"13","author":[{"given":"Paola","family":"Triggianese","sequence":"first","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome Tor Vergata","place":["Rome, Italy"]},{"name":"Hereditary and Acquired Angioedema Reference Center, Department of Scienze Mediche, Tor Vergata University Hospital","place":["Rome, Italy"]},{"name":"Nutrition and Geriatrics, Tor Vergata University Hospital","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Cedola","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome Tor Vergata","place":["Rome, Italy"]},{"name":"Hereditary and Acquired Angioedema Reference Center, Department of Scienze Mediche, Tor Vergata University Hospital","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Barone","sequence":"additional","affiliation":[{"name":"Nutrition and Geriatrics, Tor Vergata University Hospital","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrica","family":"Marchionni","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Tor Vergata University Hospital","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliana","family":"Mannucci","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Tor Vergata University Hospital","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Valentini","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine and Surgery, Tor Vergata University Hospital","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine and Surgery, Tor Vergata University Hospital","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Novelli","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome Tor Vergata","place":["Rome, Italy"]},{"name":"Medical Genetics Unit, Tor Vergata University Hospital","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Della-Morte","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome Tor Vergata","place":["Rome, Italy"]},{"name":"Nutrition and Geriatrics, Tor Vergata University Hospital","place":["Rome, Italy"]},{"name":"Department of Neurology, Evelyn F. 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