Can You Have Ehlers Danlos Without Hypermobility?

Yes, you may have EDS without hypermobility, especially in Vascular Ehlers-Danlos Syndrome. In vEDS, patients do not have extreme hypermobility (Very less only of toes and fingers) instead of common facial issues.

Vascular Ehlers-Danlos syndrome (vEDS) is a form of Ehlers-Danlos syndrome (EDS) that is distinguished by a variety of distinctive face characteristics (e.g., large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears). However, unlike the more frequent types of EDS, vEDs do not often exhibit hypermobility of the significant joints or hyperextensibility of the skin, which are characteristics of the more prevalent forms of EDS. As a result, colonic perforation or aneurysm rupture may be the first signs and symptoms of the condition. Because both complications of vEDS are connected with a decreased life expectancy for those who suffer from the condition, it is critical to be aware of the clinical characteristics of the condition.

Vascular Ehlers-Danlos syndrome

Many people who suffer from vascular Ehlers-Danlos syndrome exhibit unusual facial characteristics, such as a tiny nose, thin upper lip, small earlobes, and large eyes, among other things. They also have delicate, transparent skin that is prone to bruising and tearing. Fair-skinned persons have conspicuous blood veins beneath their skin, which is especially noticeable.

Vascular Ehlers-Danlos syndrome can cause the aorta, the heart’s main artery, to become weak, as well as the arteries that supply blood to other parts of the body. A rupture of any of these more major blood arteries has the potential to be life-threatening. This kind of angioedema can also cause weakening of the walls of the uterus and large intestine, which can lead to rupture.

Causes

There are several different kinds of Ehlers-Danlos syndrome, each of which is connected with a different genetic etiology, inherited and passed down from parent to kid. There is a 50 percent probability of passing on the gene to each of your offspring if you have the most prevalent form, hypermobile Ehlers-Danlos syndrome, which affects the joints.

Complications

The type of complications you have is determined by the indications and symptoms you are experiencing. Joint dislocations and early-onset arthritis, for example, might occur as a result of excessively flexible joints. Scarring that is visible on fragile skin is possible.

People who have vascular Ehlers-Danlos syndrome are at risk of significant blood vessel ruptures, which can be deadly in some cases. Some organs, such as the uterus and the intestines, may also burst due to this. Pregnancy can amplify the likelihood of a uterine rupture occurs.

Prevention

In the case of Ehlers-Danlos syndrome, if you have a personal or family history of the condition and are considering establishing a family, you may benefit from speaking with a genetic counselor, who is a health care specialist who is qualified to assess the risk of hereditary disorders. It is possible to benefit from genetic counseling to understand better the inheritance pattern of Ehlers-Danlos syndrome that affects you and the dangers it poses to your children.

Case Study

Here, we describe this with an example of one-person treatment proved by Liu and Baolin in 2014.

A 24-year-old healthy guy who arrived at the emergency room with stomach pain was treated with vEDS even though he did not have the telltale facial characteristics. A high-resolution computed tomography scan of the sigmoid colon revealed diverticula and a hole. The lesion caused by the sigmoid colon perforation was excised, and the Hartmann surgery was performed as a result of the removal. Because of the fragility of the vascular system, it was necessary to keep the bleeding under control during the procedure. Based on the supposed diagnosis of vEDS, further molecular and genetic testing was conducted in the laboratory. Type III collagen synthesis was reduced in cultured skin fibroblasts. A previously unknown mutation in the a1 type III collagen gene was discovered, confirming the diagnosis of venous endothelial dysfunction syndrome (vEDS). After obtaining a thorough medical history, we found that his mother had a history of significant bruising from childhood, as well as idiopathic hemothorax, which we were able to rule out. Celiprolol was prescribed for both of them. One year after being admitted, the patient was no longer suffering from recurrent perforation.

Given the high death rate associated with vEDS, especially in young people, it is vital to be aware of the condition’s clinical symptoms and no one’s family history, as illustrated in this instance. In addition, because this illness is carried in an autosomal dominant fashion, genetic tests may help determine the surgical method and provide advantages to families.

Conclusion:

It is possible to have EDS without experiencing hypermobility, particularly in the case of Vascular Ehlers-Danlos Syndrome. A rare kind of EDS, vascular EDS (vEDS), is frequently regarded as the most serious of the various types of EDS.

It affects internal organs and the blood vessels, causing them to split open and resulting in life-threatening hemorrhage if left untreated.

People who have vEDS may have the following symptoms:

  • Susceptible skin that bruises very quickly.
  • Small blood veins can be seen in the skin of the upper chest and legs, which are extremely thin.
  • Fragile blood arteries that are prone to bulging or tearing, resulting in severe internal bleeding
  • There is a danger of organ abnormalities such as intestine tears, ruptured wombs (especially in late pregnancy), and partial collapse of the lung.
  • Hypermobility is absent or insignificant.
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