迟发性脂质贮积性肌病伴致死性肝脂肪变性
Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis.
作者信息
Yavuz Arda, Ünverengil Gökçen, Yıldırım Ayşe Nur Toksöz, Maraşlı Hatice Şeyma, Tuncer İlyas
机构信息
Department of Gastroenterology, Istanbul Medeniyet University, School of Medicine, Istanbul, Turkey.
Department of Pathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
出版信息
Eur J Case Rep Intern Med. 2020 Oct 7;7(12):001980. doi: 10.12890/2020_001980. eCollection 2020.
UNLABELLED
Hepatosteatosis, a common condition, is increasing in prevalence. It is typically associated with diet, alcohol consumption and obesity. In some cases, a rare genetic disease may be the underlying defect. Lipid storage myopathy (LSM) is a genetic disease caused by lipid metabolism defects. LSM often affects the muscles, heart and liver. Coenzyme Q, riboflavin or carnitine replacement can be beneficial in some cases. We describe a patient who presented with liver failure and was unresponsive to treatment.
LEARNING POINTS
Hepatosteatosis can be associated with genetic disease and not just diet.Lipid storage disease should be considered in patients presenting with liver disease with hypoglycaemia, muscle weakness and a family history.Lipid storage disease is a rare heterogeneous genetic condition that has no specific treatment and requires further research.
未标注
肝脂肪变性是一种常见病症，其患病率正在上升。它通常与饮食、酒精摄入和肥胖有关。在某些情况下，一种罕见的遗传疾病可能是潜在缺陷。脂质贮积性肌病（LSM）是一种由脂质代谢缺陷引起的遗传疾病。LSM常影响肌肉、心脏和肝脏。在某些情况下，补充辅酶Q、核黄素或肉碱可能有益。我们描述了一名出现肝衰竭且对治疗无反应的患者。
学习要点
肝脂肪变性可能与遗传疾病有关，而不仅仅与饮食有关。对于出现肝病并伴有低血糖、肌肉无力和家族史的患者，应考虑脂质贮积病。脂质贮积病是一种罕见的异质性遗传病症，没有特定的治疗方法，需要进一步研究。
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