ホモジゴス家族性高コレステロール血症の世界的経験: 遡及的なコホート研究
PubMedで要約を見る
まとめ
この要約は機械生成です。ホモジゴス家族性高コレステロール血症 (HoFH) の患者は,診断が遅れており,治療が不足しています. 改善された多脂減脂療法は,LDLコレステロールを著しく低下させ,心血管疾患のリスクを軽減し,ケアにおける格差を強調します.
科学分野
- 心血管医学
- 遺伝学
- 公衆衛生
背景
- ホモジゴス家族性高コレステロール血症 (HoFH) は,非常に高いLDLコレステロールと早期動脈硬化性心血管疾患 (ASCVD) を引き起こす珍しい遺伝疾患である.
- HoFHの管理と予後に関する既存のデータは,主に高所得国での限られた研究から来ている.
研究 の 目的
- HoFH患者の臨床的および遺伝的プロフィールを全体的に評価する.
- 世界的にHoFH患者の健康状態に対する現在の治療法の影響を評価する.
主な方法
- HoFH国際臨床協力者レジストリからのデータを利用して,遡及的なコホート研究設計が採用されました.
- ClinicalTrials.gov (NCT04815005) で試験登録された,臨床的または遺伝的なHoFHの診断を受けた患者のデータを集めた.
主要な成果
- 38カ国から751人の患者が分析され,75%がバイアレル病原性変異体であった. 診断時の平均年齢は12歳でした.
- 治療前の平均LDLコレステロールは14. 7mmol/ Lでした. 高所得国の患者は,複数の脂質低下療法 (LLT) の使用が増加したため,治療中のLDLが低かった (3. 93 mmol/ L vs 9. 3 mmol/ L).
- 心血管疾患は,高所得国 (平均年齢37.0歳) と比較して,高所得国 (平均年齢24.5歳) で10年早く発生しました.
結論
- 世界中で HoFH の患者は遅れて診断され,十分に治療されず,早発性ASCVD の高いリスクに直面しています.
- マルチLLT療法の使用の増加は,LDLコレステロールの減少と改善と相関しています.
- HoFHの治療,LDLのコントロール,および心血管疾患のない生存率における世界的な格差は,公平なケアを確保するために,世界的な健康政策の再評価を必要とします.
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