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Signs and Symptoms of Type 3 Ehlers-Danlos Syndrome (hEDS)

Hypermobile Ehlers-Danlos Type 3 (hEDS)

What is Ehlers Danlos Syndrome Type 3 (hEDS)?

Ehlers-Danlos Syndrome (EDS) is a diverse group of congenital disorders characterized by skin, musculoskeletal, and vascular deformity manifestations.  It affects connective tissues which support tendons, ligaments, skin, blood vessels, internal organs, and bones. Of all disorders affecting the connective tissues, EDS is the most common hereditary disorder.

Who Might get Ehlers-Danlos Syndrome (EDS)?

EDS is hereditary and anyone in the family is at risk of being born with it.


What Causes Hypermobile Ehlers-Danlos Syndrome (hEDS)

A collagen deficiency- the protein that adds flexibility and strength to connective tissue causes Ehlers-Danlos Syndrome (EDS). Those with the disorder have a faulty gene leading to weak collagen or insufficient collagen in their tissues. Such defects can harm the connective tissue’s ability to support organs, muscles, and other tissues.

What are the Symptoms of Hypermobile Ehlers-Danlos Syndrome (hEDS)?

Different types of EDS III share the same symptoms.

The symptoms include:

  • Joint hypermobility- refers to an increase in the range of joint movement.
  • Stretchy skin.
  • Fragile skin that breaks or bruises easily.

EDS is relatively mild in some people, while for others, the symptoms can be disabling and life-threatening.

There are different types of EDS because of faults in certain genes that make the connective tissues weaker. This faulty gene may have been inherited from one parent or both depending on the type of EDS III.  However, there are rare instances where the faulty gene is not inherited but occurs in the person for the first time.

Are There Different Types of Ehlers-Danlos Syndrome (EDS)?

There are thirteen (13) types of EDS and despite their different grouping types and common names, each type is caused by a different gene mutation. This means that a child cannot inherit a different type of EDS from the one the parent has. Additionally, one type cannot later turn into another. Hence, there is no risk of developing another type just because you have an existing condition.

Of the thirteen, Hypermobile EDS (hEDS), formerly known as the hypermobility type or Type 3 is the most common. Classical EDS and vascular types are rare, and the other types are rarer still. There is a probability that all the types are underdiagnosed to some degree.

Hypermobile EDS

Patients with hEDS may experience the following symptoms:

  • Joint hypermobility
  • Experiencing unstable joints that can easily dislocate
  • Experiencing joint pain and clicking joints
  • Skin that bruises easily
  • Heartburn and constipation
  • Feeling dizzy and an increased heart rate after standing up
  • Having a problem with internal organs, like mitral valve prolapse or organ prolapse
  • Problems with bladder control.


Classical EDS

People with cEDS may experience:

  • Joint hypermobility
  • Unstable joints that dislocate easily
  • Stretchy skin
  • Skin that is fragile and can split easily, especially over the forehead, knees, shins, and elbows
  • Velvety skin and bruises easily
  • Wounds that don’t heal faster and leave wide scars
  • Organ prolapses

Vascular EDS

This EDS type is rare and is often considered the most serious. Additionally, it affects the blood vessels and internal organs and may cause them to split open, leading to life-threatening bleeding.

People with vEDS may experience

  •  Skin that bruises easily
  • Thin skin with visible small blood vessels, mostly on the upper chest and legs
  • Very fragile blood vessels that can easily bulge or tear, leading to serious internal bleeding
  • Hypermobile fingers and toes and unusual facial features like a thin nose and lips, large eyes, and small earlobes.



Kyphoscoliosis EDS

People with kEDS may experience:

  • Joint hypermobility
  • The curvature of the spine starts in early childhood and worsens in the teenage years.
  • Loose, unstable joints that dislocate easily
  • Very weak muscle tone from childhood which may cause a delay in sitting and walking or may lead to difficulty in walking if symptoms get worse
  • Fragile eyes that can be damaged easily
  • Velvety skin that is stretchy and bruises easily

Diagnosis and Test of Ehlers-Danlos Syndrome (EDS)

Specialists use your family history and other tests to diagnose Ehlers-Danlos syndrome. The diagnosis can involve:

  • Genetic testing- the most common way to identify the condition is by looking for a faulty gene.
  • Biopsy- the specialist removes a skin sample and examines it under a microscope, looking for signs of the condition, such as specific genes and gene mutations.
  • Physical exam- during a physical exam, doctors check how much the skin stretches and how far the joints can move.

Management and Treatment of Ehlers-Danlos Syndrome (EDS III)

Treatments for EDS III aim at preventing dangerous complications. Additionally, it can help protect the skin, joints, and other tissues from injuries.

For skin protection, doctors recommend using sunscreen and mild soaps. Taking Vitamin C also helps reduce bruising. Physical therapy can help prevent joint injuries and braces can help stabilize the joints. For patients who have thin and fragile blood vessels, constant monitoring is needed and the use of medication to help keep blood pressure low and stable is necessary.

For patients with dislocated joints and other joint injuries, doctors recommend they avoid:

Conclusion

Ehlers-Danlos syndrome is a group of conditions that affect connective tissues like cartilage, bone, fat, and blood. It is classified into thirteen (13) types based on their most notable features. Due to its hereditary nature, it cannot be prevented but management is possible. We hope this article has enlightened you on the EDS signs and symptoms.

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