Orthopedic Interventions in Ehler-Danlos Syndrome

Introduction:

Genetic mutations are often associated with systemic problems and are linked to hereditary disorders. That is why hereditary disorders like Ehlers-Danlos syndrome often cause severe systemic complications.

What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a genetic disorder of the connective tissues. This hereditary disorder affects the formation of collagen fibers, which in turn affects the skin, tendons, and ligaments. Also, this condition may affect blood vessels, internal organs, and bones. This condition was first described by two doctors named Edvard Ehlers and French dermatologist Henri-Alexandre Danlos in 1949. Almost one out of every 5000 people in the world suffers from this condition.

As discussed earlier, Ehlers-Danlos syndrome is responsible for the dysregulation of collagen synthesis and matrix protein formation. Different genetic mutations, including COL3A1, COL5A1, COL5A2, and tenascin-X genes, are associated with this condition.

Depending on the genetic involvement, common Ehlers-Danlos syndrome types are:

1. Classical EDS: This is an autosomal dominant variety. It is caused by the mutation of COL5A1 and/or COL1A1 genes. This condition is associated with the improper formation of collagen type I and type V.

2. Classical-Like EDS: This condition is associated with the mutation of the TNXB gene. It is an autosomal recessive inheritance disorder.

3. Cardiac-Valvular EDS: This condition is also an autosomal recessive inheritance disorder. The mutation of the COL1A2 and NMD genes is responsible for it. In this condition, improper synthesis of type I collagen is observed.

4. Vascular EDS: This condition is related to the mutation of the COL3A1 and COL1A1 genes. Type III and type I collagen dysfunction is observed in this autosomal dominant inheritance disorder.

5. Hypermobile EDS: This condition is caused by the mutation of the TNXB gene. This condition is also an autosomal dominant condition.

Pathophysiology:

Collagen fibers are known as the bundle block of life. This helps in the formation of the tissue matrix. As a result, the functioning of the various tissues like bones, tendons, and muscles depends on the quality and quantity of the collagen fibers. A poor quality of the collagen fibers is seen in EDS due to the following reasons;

1. Dysfunctioning of the type III collagen fibers produces fragile connective tissues. As a result, the organs do not function properly. These types of complications are attributed to the mutation of the COL3A1 gene.

2. A deficiency of enzymes like hydroxylase and lysyl oxidase leads to structural malformation of V and VI collagen fibers. The mutation of COL5A1 is responsible for this.

3. Metabolic abnormalities associated with copper metabolism and abnormal functioning of the procollagen peptidase are associated with abnormal formation of collagen fiber types VII, X, and IX.

Clinical Features:

The clinical features of Ehlers-Danlos syndrome may vary according to type. However, Ehlers-Danlos syndrome symptoms that are common despite the variations are;

1. Velvet-like texture present on the skin surface.

2. Thin atrophic scars are present on the skin surface after wound healing and delayed wound healing.

3. Absence of permanent teeth along with delayed eruption of the teeth. Defective formation of enamel and dentin. Gingival problems are present.

4. Internal organ dysfunction causes digestive and urinary problems. In severe cases, rupture of the blood vessels occurs.

5. The face is thin and slender, and the facial bones are shanken with prominent bones and lobeless ears.

6. Eyelids become puffy with the blue color of the sclera.

What Are the Orthopedic Implications of Ehlers-Danlos Syndrome?

As with every other tissue, involvement of the skeletal tissues is observed in Ehlers-Danlos syndrome.

These involvements are,

1. One of the most common conditions seen in EDS is joint hypermobility, often associated with joint discomfort and pain.

2. Collagen laxity and muscular abnormalities are often seen. It is associated with defective formation of the collagen and fibroblast dysfunctions.

3. Loss of normal curvature of the spine, which leads to kyphoscoliosis. In this condition, a lateral deviation of more than 10 degrees and forward bending of the spine are seen. In some instances, lordosis or backward bending of the spine is observed. In this condition, hypotonia or decreased muscle tone is seen. Abnormal muscle functions often lead to motor dysfunctions along with difficulty in movements. These features are commonly seen in the kyphoscoliosis type of EDS. This autosomal recessive variant is related to dysfunction of the lysyl hydroxylase enzyme.

4. The arthrochalasia type of EDS is related to severe joint hypermobility, which often causes dislocation of various joints, like hip and shoulder joints. This variant is associated with mutations in the COL1A1 and COL1A2 genes.

On examination, the following details are observed;

1. Joint hypermobility can be determined using Beighton criteria. According to these criteria, features like passive dorsiflexion of more than 90 degrees (backward bending) of the fifth digit of the hand, hyperextension of the elbow of more than 10 degrees, hyperextension of the keens more than 10 degrees, and a thumb that can be passively positioned against the front side of the forearm are observed.

2. Persons suffering from EDS can also bend forward at the waist with their legs straight, letting their hands comfortably touch the ground.

3. Bony prominences are seen in the fingers and toes. These bony prominences of ten cause difficulty in movement and pain during movement.

What Are the Roles of Orthopedic Treatments in Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) treatments include orthopedic interventions, correction of metabolic problems, and treatment of neural complications. Joint hypermobility is responsible for muscle injury, tendon rupture, and dislocation. Physical therapy improves joint and muscle strength and limits joint movement. Protective pads and braces are also helpful in joint protection.

Shoulder and knee joint instabilities are the most common orthopedic problems in such situations. Procedures like inferior capsular shift (a surgical procedure to increase the strength of the shoulder joint) are employed to prevent repeated shoulder dislocation. Surgical treatments are also used to stabilize knee, wrist, and ankle instability. Steroid injections are used to reduce joint pain and osteoarthritic changes. Fusion surgery of the spine is indicated in treating spinal deformities.

Conclusion:

Ehlers-Danlos syndrome (EDS) is a hereditary disorder affecting collagen synthesis. This condition is responsible for joint, skin, and systemic complications. Orthopedic complications like spine deformity, joint hypermobility, tendon injury, and muscle injury are common in Ehlers-Danlos syndrome (EDS). Treatment procedures like splints, braces, and surgical interventions are used to correct such complications.