什么是早发性阿尔茨海默病?

阿尔茨海默病是最常见的痴呆症. 它会影响你的记忆、思维和行为. It often progresses to the point where it affects daily activities and functions.

阿尔茨海默病最常见于老年人. 但它也会影响30多岁或40多岁的人. 当阿尔茨海默病发生在65岁以下的人身上, 它被称为早发性(或年轻发作性)阿尔茨海默病.

A very small number of people with Alzheimer disease have the early-onset form. 他们中的许多人在患病时已经四五十岁了.

大多数早发性阿尔茨海默病都是相同的. 但是有一些小的区别:

• Common Alzheimer disease. Most people with early-onset Alzheimer disease have the common form of the disease. The disease progresses in about the same way as it does in older people.

• 遗传性(家族性)阿尔茨海默病. This form is very rare. A few hundred people have genes that directly contribute to Alzheimer disease. These people start showing symptoms of the disease in their 30s, 40s, or 50s. 

什么导致早发性阿尔茨海默病?

专家们不知道是什么触发了阿尔茨海默病的开始. 他们怀疑这两种蛋白质会破坏并杀死神经细胞. Fragments of one protein, beta-amyloid, build up and are called plaques. 另一种蛋白质tau的扭曲纤维被称为缠结. 随着年龄的增长，几乎每个人都会出现斑块和缠结. 但那些患有阿尔茨海默病的人会发展出更多. 这些斑块和缠结首先会损害大脑的记忆区域. 随着时间的推移，它们会影响大脑的更多区域. Experts don't know why some people develop so many plaques and tangles or how they spread and damage the brain.

谁有患早发性阿尔茨海默病的风险?

Family history of the disease is the only known risk factor at this time.

早发性阿尔茨海默病的症状是什么?

对于大多数患有早发性阿尔茨海默病的人来说, the symptoms closely mirror those of other forms of Alzheimer disease.

Early symptoms are:

• Forgetting important things, particularly newly learned information or important dates

• 一遍又一遍地问同样的信息

• Trouble solving basic problems, such as keeping track of bills or following a favorite recipe

• 忘记日期或时间的

• 不知道自己在哪里，也不知道自己是怎么到那里的

• 深度感知障碍或其他视觉问题

• Trouble joining conversations or finding the right word for something

• Misplacing things and not being able to retrace your steps to find it

• 判断力越来越差

• 逃避工作和社交场合

• 情绪和性格的变化

Later symptoms are:

• 严重的情绪波动和行为改变

• 加深对时间、地点和生活事件的困惑

• 对朋友、家人或照顾者的怀疑

• 说话、吞咽或行走困难

• Severe memory loss

如何诊断早发性阿尔茨海默病?

The current diagnosis of early-onset Alzheimer disease relies on finding the signs of mental decline noted above. Your healthcare provider can then diagnose Alzheimer disease with a few tests.

首先，您的医疗保健提供者询问您的健康史. They also do cognitive tests of memory, problem solving, and other mental skills. 取决于办公室认知测试的结果, your provider may also request that you have more detailed testing done with a neuropsychologist. 你的医生可能还会检查你的血液、尿液和脊髓液. You may also need certain imaging test such as CT and MRI scans of your brain. These give your provider a closer look at brain tissue to show how much damage there is.

In the future, researchers hope that studies on biomarkers will allow experts to diagnose the disease more quickly. 生物标志物是体内的蛋白质, 或者其他类型的标记, 可以可靠地指示疾病的进展.

如何治疗早发性阿尔茨海默病?

早发性阿尔茨海默病目前无法治愈. But healthcare providers have been successful in helping some people maintain their mental function, control behavior, 减缓疾病的发展.

药物是用来帮助人们保持精神功能的. They may include:

• Donepezil

• Rivastigmine

• Galantamine

• Memantine

• Lecanemab-irmb

Results have been mixed. But these medicines seem to help people with their symptoms for anywhere from a few months to a few years.

Other treatments that may play a role in slowing the progress of early-onset Alzheimer disease include physical activity, 心血管和糖尿病治疗, antioxidants, and cognitive training. 这方面的一些研究正在进行中, and researchers are learning new things about Alzheimer disease every day.

早发性阿尔茨海默病可以预防吗?

专家们不知道如何预防老年痴呆症. Recently, some evidence showed that finding the disease early can lead to better treatment options. It’s best to look for any of the early warning signs mentioned above and see your healthcare provider right away if you notice any. 保持身体和精神上的活跃, 以及与他人交往, 似乎提供了一些保护.

患有早发性阿尔茨海默病

早发性阿尔茨海默病是一种很难对付的疾病. It helps to have a positive outlook and to stay as active and mentally engaged as possible.

同样重要的是要意识到你并不孤单. 尽可能多地依靠你的朋友和家人. Don’t be afraid to join a support group, if you feel that it might be helpful.

When the disease is still in its early stages, it's critical to think about the future. 这可以包括财务规划, 与雇主就当前和潜在的工作职责进行合作, 明确健康保险的覆盖范围, and getting all your important documents in order should your health take a turn for the worse. 

阿尔茨海默病无法治愈. But you can make the best of a bad situation by keeping your mind and your body as healthy as possible. This can include:

• Eating a healthy diet

• 定期锻炼

• Cutting down on alcohol

• 使用放松的方法来减少压力

我应该什么时候给我的医疗保健提供者打电话?

与任何疾病一样，密切关注自己的病情是很重要的. Call your healthcare provider if you notice any sudden changes in yourself, 或者在你关心的人身上, 这就需要更多的帮助. 您可以与您的提供者讨论接下来的步骤.

早发性阿尔茨海默病要点

• 阿尔茨海默病通常影响老年人. But early-onset Alzheimer disease can affect people in their 30s or 40s.

• 阿尔茨海默病影响记忆、思维和行为.

• There is no known cure, but early diagnosis and treatment can lead to better quality of life.

• 通过良好的饮食和规律的锻炼来保持健康.

• Stay away from alcohol and other substances that may affect memory, thinking, and behavior.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

• 知道你访问的原因和你想要发生什么.

• 在拜访之前，写下你想要回答的问题.

• Bring someone with you to help you ask questions and remember what your provider tells you.

• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. 也写下你的医生给你的任何新指示.

• Know why a new medicine or treatment is prescribed, and how it will help you. 还要知道副作用是什么.

• 询问你的病情是否可以用其他方法治疗.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if you do not take the medicine or have the test or procedure.

• If you have a follow-up appointment, write down the date, time, and purpose for that visit.

• 知道如果你有问题如何联系你的供应商, 尤其是下班后、周末和节假日.

#TomorrowsDiscoveries: Using Data to Diagnose Brain Diseases | Michael I. Miller, Ph.D.

- Watch on YouTube

Johns Hopkins researcher Michael Miller explains how we can use data to create better diagnostic tools for neurodegenerative disorders like Alzheimer's disease.