What is Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome (EDS) is a term used for a group of rare connective tissue disorders characterized by abnormalities in collagen. The typical signs of EDS include hypermobile joints and skin that can stretch beyond the usual. This condition may often lead to life-threatening impediments in severe cases.

According to the International Classification for the Ehlers-Danlos Syndromes published in 2017, thirteen subtypes have been described:

  • Hypermobile EDS (hEDS)
  • Classic EDS (cEDS)
  • Classical-like EDS (clEDS)
  • Anthrochalasia EDS (aEDS)
  • Spondylodysplastic EDS (spEDS)
  • Cardiac-valvular EDS (cvEDS)
  • Kyphoscoliotic EDS (kEDS)
  • Vascular EDS (vEDS)
  • Brittle cornea syndrome (BCS)
  • Myopathic EDS (mEDS)
  • Dermatosparaxis EDS (dEDS)
  • Musculocontractural EDS (mcEDS)
  • Periodontal EDS (pEDS)

Diagnosis

Signs and symptoms vary depending on the type of EDS. While some of the symptoms such as hyperextensible skin and scars are common across the subtypes, a few are quite specific. For instance, patients with hEDS suffer from fragile joints that have extended ranges of movement beyond their normal course. Joint pain, clicking sounds, and dislocations are commonly observed upon joint movement in such patients. Other symptoms include dizziness upon slight exertion, constipation, fatigue, and chest pain.

Patients with a rare but very serious subtype, vEDS display a range of symptoms such as thin skin with visible blood vessels, especially in chest and lower extremities. Swelling and rupture of the small blood vessels may often lead to serious internal bleeding and organ complications. vEDS patients suffer from impaired wound healing. This may precipitate serious complications in pregnant patients.

Etiology

Genetic mutations (either inherited or spontaneous) are the underlying reason for this syndrome.

The defective genes are usually passed on from one or both parents to the child. Both males and females are at equal risk of developing EDS.

In the case of a dominant form of EDS, the offspring receives a single copy of the abnormal gene from either parent, resulting in phenotypic changes and visible manifestations of the disease. However, when the child receives a normal copy of the gene from one parent along with a defective gene copy from another parent,  the syndrome remains largely dormant. The offspring do not have the disease symptoms, but act as a carrier for the same mutation which can pass down to their lineage.

In certain cases, EDS may also be a result of a spontaneous gene mutation. The individual with such de novo mutations may develop EDS despite the fact that the parents have a normal set of genes. Some major genes that encode collagen formation and are known to be affected in EDS include COL5A1, COL5A2, COL1A1, COL1A2, and COL1A3.

Due to the severity of some of these syndrome, when a family history of EDS exists it is advisable to consult a physician before planning a pregnancy, to better understand the risks and possible solutions.

Management of EDS

As of now, no curative treatment is available for EDS. However, a combination of various physiotherapy, diagnostic, and adaptive approaches may help substantially in managing the condition.

The key to effectively manage EDS is proactive therapy. As these patients are susceptible to bone fractures and dislocations, they must be advised to refrain from strenuous physical activities and sports. Light exercises on the other hand, are usually beneficial to improve strength and stamina. Patients are also trained to control their pace of activity to avoid excessive fatigue and strain. Vitamin D supplements are also given to help improve their bone density.

Physicians must schedule regular monitoring for such individuals using non-invasive techniques (such as MRI and CT scan) as well as routine physical examinations. This can help a lot in assessing internal bleeding and organ damage, if any.

Due to the poor wound healing capacity, superficial stitches must be retained for a longer period of time than usual to allow proper healing. Sutures must also be put in with great care to optimize scar formation and avoid ugly or prominent scars on the skin. Vitamin C is also prescribed to help reduce bruising in many cases.

Several other symptomatic treatment approaches may be employed depending on the type of EDS and the severity of the condition.

Further Reading

Last Updated: Feb 26, 2019

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