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The 'ticking time bomb' of ultra-rare heart condition

机译:超稀有心脏条件的“滴答时间炸弹”

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摘要

Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare form of a very common, genetic condition, called Familial Hypercholesterolaemia (FH), which compromises the body's ability to remove LDL, or "bad", cholesterol from the blood. This leads to strokes and heart attacks if not diagnosed and treated. As such, COVID-19 and the world's response to it has exacerbated the situation due to diversion of healthcare services and priorities. "It's a lifelong condition that people are born with. Left untreated, patients start to experience cardiovascular events such as heart attacks or strokes by the age of 10 to 12. If left untreated, life expectancy is 18 years and even with treatments such as statins and apheresis the mean life expectancy is 48 years," says Joe Wiley, CEO of Amryt Pharma. While treatments are available, many people have been unable or too scared to go to the hospital during the SARS-C0V-2 pandemic, so, many patients have been unable to access care.
机译:纯合家族高胆固醇血症(HOFH)是一种非常常见,遗传条件的超稀有形式,称为家族性高胆固醇(FH),损害了身体去除LDL或“坏”,胆固醇的能力。如果没有诊断和治疗,这导致笔触和心脏病发作。因此,Covid-19和世界对其的反应加剧了由于医疗保健服务和优先事项的转移而导致的情况。 “这是人们出生的终身状况。留下了未经处理的,患者开始体验心脏病或中风等心血管事件,如10至12岁。如果没有治疗,预期寿命为18岁,甚至是他汀类药物艾米特医药首席执行官Joe Wiley说,平均预期寿命为48岁。虽然治疗是可用的,但在SARS-C0V-2大流行期间,许多人都无法或过于害怕去医院,因此,许多患者无法访问护理。

著录项

  • 来源
    《New scientist》 |2020年第3301期|b9-b9|共1页
  • 作者

    Amanda Barrell;

  • 作者单位
  • 收录信息 美国《科学引文索引》(SCI);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

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