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Updated: Feb 24, 2026

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高齢化と希少疾患:疫学から行動喚起へ
Monica Mazzucato1,2, Giulia Fanton3, Andrea Vianello4
1Rare Diseases Coordinating Centre, Padua University Hospital, Veneto Region, Padua, Italy. monica.mazzucato@unipd.it.
European geriatric medicine
|February 23, 2026
まとめ
高齢者は希少疾患(RD)患者の増加するセグメントである。2022年には、65歳以上の9,500人以上がRDを患っており、専門的な老年科医療の必要性を強調している。
科学分野:
- 老年医学
- 希少疾患疫学
背景:
- 世界的な高齢化と医療の改善により、希少疾患(RD)を有する高齢者の数が増加している。
- 希少疾患は、診断および治療の複雑さから、高齢者集団において特有の課題をもたらす。
研究 の 目的:
- イタリア、ヴェネト州における希少疾患を有する高齢者(65歳以上)の有病率と特徴を評価すること。
- この新たな人口統計の治療計画を分析すること。
主な方法:
- ヴェネト州希少疾患レジストリ(VRRDR)の人口ベースデータを利用した。
- 2022年12月31日時点での高齢希少疾患患者の有病率を推定した。
- 高齢期における新規診断と成人期からの移行、および治療計画の構成を分析した。
主要な成果:
- 2022年12月31日現在、65歳以上の希少疾患患者は9,508人であり、ヴェネト州の全希少疾患患者の20.8%を占めていた。
- 高齢患者における最も一般的な希少疾患群は、全身性/リウマチ性疾患(27%)、神経疾患(25%)、皮膚疾患(9%)であった。
- 高齢希少疾患患者のうち、1,519人が治療計画を有しており、最も一般的なものは神経系薬剤(27.8%)、消化管/代謝系薬剤(12.8%)、抗腫瘍/免疫調節薬(11.6%)であった。
結論:
- 高齢者は、希少疾患人口のかなりの割合を占め、増加している。
- 老年科医および一般開業医は、高齢希少疾患患者のケアニーズを管理するためのトレーニングを必要とする。
- この人口統計の未だ満たされていないニーズを特定し、健康政策に情報を提供するために、さらなる研究が不可欠である。
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