Ehlers-Danlos综合征(EDS)是一组引起异常胶原蛋白功能的遗传条件。它们可以影响支撑皮肤​​,关节,骨骼,血管和器官的结缔组织。

具有EDS的人可能会遇到增加的关节活动性,并具有弹性,脆弱的皮肤,容易破裂。ED的每种情况都不同,并且没有单一的治疗方法。

There are 13 types of EDS, all of which produce different symptoms and health outcomes.

For example, vascular EDS affects the cardiovascular system, whereas dermatosparaxis EDS produces more skin-centric symptoms.

The 13 types of EDS are:

  • hypermobile
  • classic
  • 像经典
  • cardiac-valvular
  • 血管
  • 阿思哈拉氏症
  • 皮肤par
  • Kyphoscoliotic
  • brittle cornea
  • spondylodysplastic
  • 肌肉合法性
  • 肌病
  • 牙周

Hypermobile经典是ED的最常见类型。

Your EDS symptoms会有所不同取决于您拥有哪种类型的ED。症状的严重程度也将在经历相同类型的ED的人之间有所不同。

However, some symptoms are more common across cases than others.

松散的关节

One common symptom of EDS isjoint hypermobility这就是关节中的运动范围要比平常更大的时候。ED会影响collagen在关节中的肌腱和软骨中起作用,这可能导致过度运动。ED可以影响体内的所有关节。

In mild cases, a person will be able to move joints in a greater range of movement than normal and may experience light pain during activities. In more severe cases, a person may be at a更大的风险of joint dislocations and joint instability.

Joint looseness can affect muscle and nerve development in young children.

弹性皮肤

皮肤缺乏胶原蛋白会导致EDS患者的皮肤弹性,弹性。皮肤弹性affects all formsof EDS except vascular EDS.

Classic EDS and dermatosparaxis EDS typically affect the skin the most. If you have dermatosparaxis EDS, you may find that your skin doesn’t bounce back as it should, and you may experience loose skin or skin folds.

Fragile skin

与ED一起生活时,您可能还会发现您的皮肤很脆弱。您可能更容易割伤,瘀伤和伤口,可能会缓慢愈合。与皮肤弹性一样,这是由于皮肤中的胶原蛋白缺陷所致。

People with classic EDSmay experiencewounds that open with little bleeding and leave visible scars that widen over time. Some people refer to these as “cigarette paper scars.”

Other symptoms of classic EDS include:

  • 皮肤容易擦伤
  • 多余的皮肤折叠在眼睛上
  • 肌肉疼痛
  • 肌肉疲劳
  • benign growths on pressure areas, like elbows and knees
  • 心脏瓣膜问题

Symptoms of hypermobile EDS (hEDS)

Hypermobile EDS accounts for around 80 to 90 percent EDS的病例。它的主要症状是松散的或弱joints. If you have hypermobile EDS, you may also experience any of the following.

  • loose joints
  • 容易瘀伤
  • 肌肉疼痛
  • 肌肉疲劳
  • chronic degenerative joint disease
  • 早产osteoarthritis
  • chronic pain
  • 心脏瓣膜问题

Symptoms of vascular EDS

Vascular EDS primarily affects the cardiovascular system and is a severe health condition. Symptoms of vascular EDS include:

  • fragile blood vessels
  • thin skin
  • 透明的皮肤
  • thin lips
  • sunken cheeks
  • 肺萎陷
  • 心脏瓣膜问题

EDS affects1 in 5,000people worldwide and1 in 2,500 – 1 in 5,00 births。在大多数情况下,一个人将从父母那里继承状况。

In rare cases a person may develop EDS due to spontaneous mutations in genes involved in collagen function.

Doctors may use a series of tests to diagnose EDS or rule out similar conditions.

这些测试可以包括:

为了确定遗传起源,医生可以从您的手臂上取血样本并在某些基因中测试突变。然后,他们可以使用皮肤活检检查胶原蛋白功能的异常。这涉及去除小型皮肤样品并在显微镜下检查。

超声心动图使用声波来创建心脏的移动图像。如果存在异常,这将向医生展示医生。

ED的表现和症状将逐案不同。结果,通常有no singular treatmentfor these conditions, and your EDS plan will depend on your symptoms.

Treatment will revolve around最小化疼痛, reducing the risk of serious complications, and assisting your day-to-day life.

但是,在大多数情况下,具有EDS的人会接受以下一些治疗方法:

  • physical therapy to rehabilitate joints and muscles
  • 修复受损关节的手术
  • drugs to minimize pain

根据您经历的疼痛或任何其他症状,可能会提供其他治疗选择。

EDS is normally a genetic condition, and you cannot prevent it. However, if you have EDS, you may be able to prevent further complications and improve your general quality of life.

以下可能会帮助您管理状况:

  • avoiding contact sports
  • avoiding lifting weights
  • usingsunscreen保护皮肤
  • avoiding harsh soaps that may overdry the skin or causeallergic reactions
  • 使用辅助设备来最大程度地减少关节的压力

Also, if your child has EDS, follow these steps to prevent injuries and protect their joints. In addition, put adequate padding on your child before they ride a bike or are learning to walk.

ED的并发症可能包括:

The patient outlook varies between the types of EDS. People with many forms of EDS, such as classic and hypermobile EDS, may see no significant reduction in lifespan. These conditions may affect day-to-day activities but don’t increase the risk of premature death.

However, vascular and kyphoscoliosis EDS do carry a reduced life expectancy. Due to its impact on the cardiovascular system, the median life expectancy of people with vascular EDS is48 years

如果您怀疑根据您的症状有EDS,那么探访医生很重要。他们将通过一些测试或排除其他类似条件来诊断您。您的医生将与您一起制定治疗计划。