重篤な骨格系障害が及ぼす生命への影響1,2

骨格系障害は、低ホスファターゼ症(HPP)患者さんの日常生活に多大なる支障をきたし、また、生命を脅かします1,3-8

患者さんには以下のような症状がみられます10-17

  • 重度の低石灰化
  • くる病様症状と骨格変形
  • 骨軟化症様病変
  • 骨折の遷延治癒
  • 非外傷性骨折を繰り返す
  • 反復的な外科的介入


骨幹端の低石灰化13/ベル状胸郭9/両脚の急性大腿骨転子下骨折19

患者報告調査a

成人HPP患者さんの76%に重度の慢性骨痛が発現し、日常生活に大きな支障をきたしています15

aHPP Impact Survey(HIPS):インターネットによるアンケート調査。HPP患者さん133例(調査時点で18歳以上の成人89例、18歳未満の小児44例)を対象として、人口統計学的データ、HPPに関連する病歴、疾患の進行、健康関連QOLを調査しました15

呼吸器障害

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