Ehlers-Danlos Syndrome Similar to DSLD-ESPA

Ehlers-Danlos Syndrome is a human disease similar to DSLD-ESPA in horses.

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What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome is a group of inherited connective tissue disorders, caused by faulty collagen (a protein in connective tissue).

Connective tissue helps support the skin, muscles, ligaments and organs of the body. People who have the defect in their connective tissue associated with Ehlers-Danlos Syndrome may have symptoms which include joint hypermobility, skin which is easily stretched and bruised, and fragile tissues. There are six major classifications of Ehlers Danlos Syndrome.

What Are The Six Types of Ehlers- Danlos Syndrome?

Ehlers-Danlos Syndrome has been classified into six types:

• Hypermobility
• Classical
• Vascular
• Kyphoscoliosis
• Arthrochalasia
• Dermatosparaxis

Hypermobility Type of Ehlers-Danlos:

The primary symptom associated with the Hypermobility Type of Ehlers-Danlos Syndrome is generalized joint hypermobility which affects large and small joints. Joint subluxations and dislocations are a commonly recurring problem. Skin involvement (stretchiness, fragility, and bruising) is present but to varying degrees of severity, according to the Ehlers-Danlos Foundation. Musculoskeletal pain is present and can be debilitating.


Classical Type of Ehlers-Danlos :
The primary symptom associated with the Classical Type of Ehlers-Danlos Syndrome is distinctive hyperextensibility (stretchiness) of the skin along with scars, calcified hematomas, and fat-containing cysts commonly found over pressure points. Joint hypermobility is also a clinical manifestation of the Classical Type.

Vascular Type of Ehlers-Danlos:
The Vascular Type of Ehlers-Danlos Syndrome is considered the most serious or severe form of Ehlers-Danlos Syndrome. Arterial or organ rupture can occur which can lead to sudden death. Skin is extremely thin (veins can be seen easily through the skin) and there are distinctive facial characteristics (large eyes, thin nose, lobeless ears, short stature and thin scalp hair). Clubfoot may be present at birth. Joint hypermobility usually only involves the digits.

Kyphoscoliosis Type of Ehlers-Danlos:
Generalized joint laxity (looseness) and severe muscle weakness are seen at birth with the Kyphoscoliosis Type Of Ehlers-Danlos. Scoliosis is observed at birth. Tissue fragility, atrophic scarring (causing a depression or hole in the skin), easy bruising, scleral (eye) fragility and ocular rupture are possible clinical manifestations as well as spontaneous arterial rupture.

Arthrochalasia Type of Ehlers-Danlos:
The distinguishing feature of the Arthrochalasia Type of Ehlers-Danlos is congenital hip dislocation. Severe joint hypermobility with recurrent subluxations are common. Skin hyperextensibility, easy bruising, tissue fragility, atrophic scars, loss of muscle tone, Kyphoscoliosis, and osteopenia (bones which are less dense than normal) are also possible clinical manifestations.

Dermatosparaxis Type of Ehlers-Danlos:
Severe skin fragility and bruising are characteristics of the Dermatosparaxis Type Of Ehlers-Danlos. Skin texture is soft and sagging. Hernias are not uncommon.


Increasing Awareness of Ehlers-Danlos Syndrome :
The types of Ehlers-Danlos Syndromes (EDS) are treated based on the clinical manifestation which is problematic. Skin protection, wound care, joint protection, and strengthening exercises are important to the treatment plan. The debilitating and sometimes fatal condition affects about 1 in 5,000 people. At least 50,000 Americans have EDS. It is estimated that 90% of people who have Ehlers-Danlos syndrome go undiagnosed until an emergency occurs which requires immediate medical attention.