Ehlers–Danlos syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics

Ehlers–Danlos syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Joint hypermobility, skin hyperextensibility, tissue fragility
Complications	Joint dislocations, chronic pain, early-onset osteoarthritis
Onset	Varies by type, often present from birth
Duration	Lifelong
Types	Classical EDS, Hypermobility EDS, Vascular EDS, Kyphoscoliotic EDS, Arthrochalasia EDS, Dermatosparaxis EDS, others
Causes	Genetic mutations
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Marfan syndrome, Loeys-Dietz syndrome, Osteogenesis imperfecta
Prevention	N/A
Treatment	Physical therapy, pain management, surgery for complications
Medication	Pain relievers, antidepressants for chronic pain
Prognosis	Varies by type; some types have normal life expectancy, others may have life-threatening complications
Frequency	Estimated 1 in 5,000 to 1 in 20,000 people
Deaths	Rare, but possible in vascular type due to arterial rupture

Group of genetic connective tissue disorders

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissue, which provides support in skin, bones, blood vessels, and other organs. The syndrome is characterized by hypermobile joints, hyperelastic skin, and tissue fragility. There are several types of EDS, each with distinct genetic causes and clinical presentations.

Classification

EDS is classified into several types based on the specific symptoms and genetic mutations involved. The most common types include:

• Classical EDS (cEDS): Characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility.
• Hypermobility EDS (hEDS): The most common form, marked by joint hypermobility and chronic pain.
• Vascular EDS (vEDS): A severe form that affects blood vessels and internal organs, leading to a risk of rupture.
• Kyphoscoliotic EDS (kEDS): Notable for severe curvature of the spine and muscle weakness.

Joint hypermobility in EDS

Signs and Symptoms

The symptoms of EDS vary widely depending on the type, but common features include:

• Joint hypermobility: Joints that move beyond the normal range, leading to frequent dislocations and pain.
• Skin hyperextensibility: Skin that can be stretched further than normal and is often velvety to the touch.
• Tissue fragility: Easy bruising and poor wound healing, often resulting in atrophic scars.

Atrophic scars typical of EDS

Genetics

EDS is primarily inherited in an autosomal dominant manner, although some types are autosomal recessive. Mutations in genes responsible for collagen production and structure, such as COL5A1, COL5A2, and COL3A1, are commonly implicated.

Diagnosis

Diagnosis of EDS is based on clinical evaluation, family history, and genetic testing. The Beighton score is often used to assess joint hypermobility.

Management

There is no cure for EDS, but management focuses on alleviating symptoms and preventing complications. This may include:

• Physical therapy: To strengthen muscles and improve joint stability.
• Pain management: Using medications and lifestyle modifications.
• Surgical interventions: In cases of severe joint dislocations or vascular complications.

Hyperextensible skin in EDS

Prognosis

The prognosis for individuals with EDS varies depending on the type and severity of the condition. While some individuals may lead relatively normal lives, others may experience significant disability and life-threatening complications, particularly in the case of vascular EDS.

See also

• Connective tissue disease
• Joint hypermobility syndrome
• Marfan syndrome

Kyphoscoliosis in EDS

External links

• The Ehlers-Danlos Society
• Genetics Home Reference: Ehlers-Danlos Syndrome