Ehlers-Danlos Syndrome

Ehlers–Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissue. Connective tissue provides strength and elasticity to structures such as the skin, joints, blood vessels, and internal organs. In individuals with EDS, these tissues tend to be more elastic, fragile, or weak than normal. To date, 13 different subtypes of EDS have been identified, each with its own specific symptoms and genetic characteristics.

Although symptoms vary by subtype, the most common features of EDS include:

Joint hypermobility: Joints can move far beyond the normal range. This can lead to frequent sprains, dislocations, and joint pain.

Skin abnormalities: The skin is typically soft, velvety, and overly elastic. It may tear easily, and wound healing is often delayed. Healed wounds may leave wide, thin, and fragile scars.

Vascular and organ fragility: In some subtypes, particularly vascular EDS, large blood vessels and internal organs are at risk of spontaneous rupture, which can be life-threatening.

Oral and dental issues: Gums may be fragile and prone to bleeding. Tooth fractures, enamel-dentin defects, and temporomandibular joint (TMJ) dislocations are also common.

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Each EDS subtype has distinct genetic causes. For example:

• Classical EDS (cEDS): Characterized by highly elastic skin, abnormal scarring, and joint laxity. It is typically associated with mutations in the COL5A1 or COL5A2 genes.
• Vascular EDS (vEDS): Characterized by fragile blood vessels and internal organs, leading to risk of sudden rupture. It is linked to mutations in the COL3A1 gene.
• Hypermobile EDS (hEDS): Involves extreme joint flexibility. The causative gene has not yet been identified. It is the most common subtype.

Diagnosis is primarily based on clinical findings and family history. Physical examination evaluates joint and skin elasticity, scar appearance, and body structure. In some subtypes, genetic testing can confirm the diagnosis. Dentists may play a key role, especially in recognizing oral and maxillofacial signs.

There is currently no known cure for EDS. Treatment focuses on symptom relief and prevention of complications. Common approaches include:

• Physical therapy and exercise: Designed to strengthen muscles and improve joint stability.
• Pain management: May involve medications, nerve blocks, or supportive devices to address chronic pain.
• Surgical intervention: Required in cases of tissue rupture or joint damage, but healing is often slow and carries higher risks in EDS patients.
• Anesthesia precautions: Special care is needed during surgeries. Sensitivity of the trachea, blood vessels, and skin can increase procedural risks. Patients may also show resistance to local anesthetics and heightened drug sensitivities.

With appropriate care and lifestyle adjustments, individuals with EDS can maintain a good quality of life. Avoiding high-impact exercise, minimizing injury risk, and attending regular medical and dental check-ups are important. Additionally, comorbid conditions such as dysautonomia (e.g., POTS) and mast cell activation syndrome (MCAS) should be considered in management plans.