単一の米国保健医療システム内の家族性高コレステロール血症の遺伝子識別
Noura S Abul-Husn1, Kandamurugu Manickam2, Laney K Jones2
1Regeneron Genetics Center, Tarrytown, NY 10591, USA.
まとめ
家族性高コレステロール血症 (FH) は診断不足ですが,ゲノムスクリーニングにより冠動脈疾患のリスクが高いキャリアが特定されます. 多くのFH患者は不十分な治療を受け,診断の改善と脂質低下治療の必要性を強調しています.
科学分野:
- 遺伝学
- 心臓病科
- 公衆衛生
背景:
- 家族性高コレステロール症 (FH) は,高LDLコレステロールと早発性心血管疾患につながる一般的な遺伝疾患です.
- コレステロールのスクリーニングにもかかわらず,FHは一般的な集団で著しく診断されていないままです.
研究 の 目的:
- エクソームシーケンシングとEHRデータを用いて,FHに関連したゲノム変異の流行と臨床的影響を決定する.
- 特定されたFH変異のキャリアにおける診断のギャップと現在の脂質低下治療の状態を評価する.
主な方法:
- 50,726人のエクソームシーケンシングと電子健康記録 (EHR) データ分析
- 非選択および心経導管で確認されたコホートにおけるFH変異の流行率の推定.
- 冠動脈疾患 (CAD) のリスクとFHキャリアにおける治療パターンの評価
主要な成果:
- FHの罹患率は一般人群では1:256で,心経導管患者では1:118と推定された.
- 冠動脈疾患のリスクが著しく高かった.
- 遺伝子検査の前にFH診断の臨床基準を満たしたのは,キャリアの24%のみでした.
- 患者の58%がスタチン療法を受け,そのうち46%がLDL- C < 100 mg/ dLであった.
結論:
- ゲノムスクリーニングはFHの患者を効果的に特定し,その多くは診断されていないか,または最適でない治療を受けている.
- このアプローチは,FH患者の診断を早め,心血管疾患のリスクを減らすために管理を改善することができます.
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