中性脂肪蓄積症ミオパチー/中性脂肪蓄積心筋血管症に対するリハビリテーションによりQOLの向上を認めた症例

Rehabilitation of a Patient with Neutral Lipid Storage Disease with Myopathy and Triglyceride Deposit Cardiomyovasculopathy : a Case Report

はじめに

　細胞内中性脂肪分解の必須酵素であるadipose triglyceride lipase（以下，ATGL）の遺伝子変異は，中性脂肪蓄積症ミオパチー（neutral lipid storage disease with myopathy，以下NLSDM)¹⁾や中性脂肪蓄積心筋血管症（triglyceride deposit cardiomyovasculopathy，以下TGCV)²⁾を引き起こす．NLSDMでは，骨格筋に中性脂肪が蓄積し，四肢に進行性の筋力低下や筋萎縮をきたすのに対し，TGCVは心筋細胞，冠動脈血管平滑筋に中性脂肪が蓄積することによって，重度の心不全，不整脈，虚血性心疾患などを呈する難病である．特にATGL欠損症ホモ接合体の原発性TGCVは大変稀な疾患であり，心臓死例や心臓移植例の報告がある³⁾．動物モデルであるATGL欠損マウスを用いた実験においては運動耐容能の低下を認めた報告がある⁴⁾．NLSDM/TGCV患者での運動耐容能，quality of life（以下，QOL）およびリハビリテーション（以下，リハ）については検索した限りでは報告例がない．今回，NLSDM/TGCV患者にリハを施行し，activities of daily living（以下，ADL）およびQOLに良好な改善を認めた症例を経験したので報告する．

Adipose triglyceride lipase (ATGL) catalyzes the first step of triglyceride hydrolysis. The gene mutations cause neutral lipid storage disease with myopathy (NLSDM) and/or triglyceride deposit cardiomyovasculopathy (TGCV). Here we give the first report on rehabilitation of a patient with NLSDM and TGCV. The 62-years-old patient was admitted to our hospital for rehabilitation for skeletal myopathy and rehabilitation for cardiac dysfunction (NYHA class Ⅲ, ejection fraction 20%). He complaint of dyspnea during the activity of daily life and exercise torelance was low. Our rehabilitation program consisted of physical therapy, occupational therapy, nutrition and cardiac education. We had paid a special attention to the intensity of exercise (aerobic training and resistance training) due to the low cardiac function, energy dysfunction and myopathy. After rehabilitation for two months, muscle strength had increased and 6MWT, ATVO₂ had improved. Importantly, the reduction of dyspnea on exertion as well as the increase in exercise capacity are considered to have led to improvement of quality of life.