6你可以拥有attr-cm的偷偷摸摸的标志

经过Matt McMillen 卫生师

Transthyretin心脏淀粉样症状(or ATTR-CM for short) is a heart condition that can lead to heart failure, and it can be fatal. Unfortunately, many of its symptoms are vague, which may delay diagnosis for years. That’s a problem, says Shahid Qamar, M.D., a cardiologist at Orlando Health Heart & Vascular Institute in Orlando, FL, since “early diagnosis is key to the management of the disease” to “prevent it from progressing and improve quality of life.” Let’s take a look at ATTR-CM—and how you can spot its warning signs.

肝
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ATTR-CM and a Problematic Protein

When you have ATTR-CM, a protein that’s produced by your liver (calledTransthyretin.) breaks apart and then clumps together to form what are calledamyloid fibrils。麻烦是,你的身体无法摆脱这些团块。相反,它们在各种器官中建立起来,造成严重破坏。“当它发生在心脏中,心脏僵硬”,“Qamar博士解释道。随着时间的推移,这种加强会导致心力衰竭,你的心脏不能有效地泵出血的情况。有时,基因突变导致attr-cm中发现的蛋白质问题,但更常见的原因是未知的。这就是所谓的wild type ATTR-CM

腕管综合症
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Initial ATTR-CM Symptoms Can Be Misleading

“心脏症状很少是疾病的第一个迹象,”纽约市Lenox Hill医院心脏病学系的心脏病学家Dennis Finkielstein,M.D。“遗憾的是,第一个迹象是一种非常常见的东西,如腕管综合征和腰痛。”研究人员估计,在症状开始后,估计近六年需要六年时间。事实上,由于它在其早期阶段引起的各种可能的症状,甚至可能甚至首先被认为是心脏问题。

Carpal Tunnel Syndrome
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腕管综合症可以是attr-cm线索

腕管综合征(CTS)在你的中位神经穿过手腕中的腕管,被捏住。结果:手臂和手臂疼痛,刺痛和麻木。这与attr-cm有什么关系?淀粉样蛋白原纤维丛可以收集在你的手腕中,导致你的韧带和肌腱加厚,压制在你的中位神经上。这是attr-cm最常见的早期症状,影响所有野生型attr-cm的一半人。CTS症状可以在心脏症状之前开始。如果您没有明显的伤害或关节炎,CTS应该提高红旗。

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背部疼痛也可以销售近斯tr-cm

Spinal stenosis, or lower back pain, is another common early symptom of ATTR-CM. Like carpal tunnel, it often begins long before heart-related symptoms. Recent research suggests that up to about one in five people with ATTR-CM will experience spinal stenosis, a nerve-pinching narrowing of the spaces in your spine that causes pain, numbness, and tingling. “Low back pain from spinal stenosis can be one of the first signs of ATTR-CM,” says Dr. Finkielstein. But like carpal tunnel syndrome, more common causes usually explain spinal stenosis, such as arthritis or back injuries. And that can mean a missed opportunity to diagnose ATTR-CM early.

痛苦的脚
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其他迹象包括在肢体,臂和脚上刺痛

Another nerve-related sign of ATTR-CM: peripheral neuropathy. Your peripheral nerves are nerves found outside your brain and spine. They relay messages from your brain to the rest of your body and pass signals back to your central nervous system. The most common sign that ATTR-CM has affected these nerves: pain, numbness, tingling, or burning sensations in your hands, feet, arms, and/or legs. But here’s the problem, says Dr. Finklielstein: “Neuropathy [in ATTR-CM] is easily mistaken for diabetic neuropathy.” If you already have diabetes, your doctor may not look any further for a cause of your discomfort.

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Arm Pain Is Common in ATTR-CM

通常,创伤损伤或过度使用导致二头肌肌腱破裂或撕裂。然而,有attr-cm的人们似乎有一个增加的自发破裂的风险,这意味着你的二头肌肌腱可能没有原因或警告(突然,你的上臂或肘部疼痛或肘部可能提示你)。原因?可能在肌腱本身中的淀粉样蛋白累积。在2017年的研究中,涉及一百多百人心力衰竭,其中三分之一的人在野生型attr-cm有一个破裂的二头肌肌腱。同时,这种破裂发生在不到3%的人中没有attr-cm的那些。

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attr-cm可以误认为是心力衰竭

Your doctor may not recognize ATTR-CM even when the disease causes heart symptoms, “which makes it hard to get a proper diagnosis,” says Dr. Finkielstein. In fact, ATTR-CM can带领心力衰竭。随着你的心脏变得越来越少,能够有效地抽血,液体在肺部和其他地方施加液体。这导致呼吸急促,疲劳和肿胀等症状,特别是在你的脚和腿上。这是心力衰竭,但由于它是由attr-cm引起的,它需要不同的治疗,使得精确的诊断必不可少。

头晕的女人
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头晕可能发出attr-cm

You may experience other symptoms related to your heart. “One of the initial presentations is a heart block, which causes dizziness, lightheadedness, and passing out,” says Dr. Qamar. A heart block is a heart rhythm disorder, or心律失常,让你的心跳减慢或导致你的心脏跳过节拍。结果:你的心脏不能有效地抽血。当原纤维堆积干扰您的心脏电气系统时,会发生这种情况,使其上腔室和下腔室无法正常通信。“有时这是我们将看到的唯一症状,所以我们进一步挖掘了很多东西来弄清楚为什么,”Qamar博士说。

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现在可用于attr-cm

直到最近,识别这些符号的原因ptoms made no difference, because nothing could be done to treat ATTR-CM. Fortunately for the 100,000 people in the U.S. estimated to have the disease, that changed in 2019, when the FDA approved Vyndamax (tafamidis). Now, it’s critical for people to take the warning signs seriously, and for doctors to dig deeply for their causes, so that the disease can be identified as soon as possible. “The earlier you diagnose, the more effective the therapy, because treatment can halt the disease’s progress but can’t reverse it,” says Dr. Finkielstein.

ATTR-CM Overview:美国心脏病学院。(2016)。“心脏淀粉样症状。”https://www.acc.org/latest-in-cardiology/arlicle/2016/59/07/14/59/cardiac -Myloidiss.

ATTR-CM Overview:Cleveland Clinic. (2020). “Amyloidosis: ATTR (transthyretin).”https://my.clevelandclinic.org/health/diseases/17855-amyloidosis-attr.

ATTR-CM Overview:Journal of the American College of Cardiology。(2020.)“Transthyretin淀粉样蛋白心肌病:Jacc最先进的审查。”https://www.sciencedirect.com/science/article/pii/s0735109719347291.

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Matt McMillen

自2002年以来,Matt McMillen一直是自由职业者健康记者。在那个时候,他写了从针灸到Zika病毒的一切。他涵盖了突发的医学新闻和最新的医学研究,概况概述了医疗条件的手工艺品。他的工作出现在线和印刷品,在华盛顿邮政WebMD杂志糖尿病ForecastAARP.,其他地方。