Ehlers-Danlos syndromes (EDS) are a group of inherited disorders that primarily affect the body's connective tissues.
Connective tissues, made up of proteins like collagen, provide strength and elasticity to structures throughout the body, including:
- Skin
- Tendons
- Ligaments
- Blood vessels
- Internal organs
- Bones
Because connective tissue is found throughout the body, EDS can manifest in a wide range of symptoms and varying degrees of severity.
Types of EDS
There are several types of EDS, each with specific diagnostic criteria. Some of the more well-known types include:
- Classical EDS (cEDS): Characterized by joint hypermobility, skin hyperextensibility (stretchy skin), and fragile skin that bruises easily.
- Hypermobile EDS (hEDS): The most common type. It is characterized primarily by joint hypermobility, but the diagnosis can be complex as the underlying genetic cause is still unknown. Diagnostic criteria are based on clinical assessment.
- Vascular EDS (vEDS): The most serious type, as it can lead to life-threatening complications due to arterial, bowel, or uterine rupture. It's characterized by thin, translucent skin, easy bruising, and arterial or organ fragility.
Symptoms of EDS
Symptoms can vary widely depending on the specific type of EDS and the individual affected. Common symptoms include:
- Joint hypermobility: Joints that move beyond their normal range of motion. This can lead to frequent dislocations and subluxations (partial dislocations).
- Skin hyperextensibility: Skin that can be stretched easily and may return slowly to its normal position.
- Skin fragility: Skin that tears easily, heals poorly, and leaves wide, atrophic (scarred) scars.
- Chronic pain: Pain in the joints, muscles, and back is common.
- Fatigue: Feeling tired and lacking energy.
- Cardiovascular problems: Some types of EDS, particularly vEDS, can affect the blood vessels and heart.
- Digestive issues: Such as irritable bowel syndrome (IBS) or gastroparesis (delayed stomach emptying).
Diagnosis
Diagnosis usually involves a physical examination, a review of medical history, and genetic testing (depending on the suspected type of EDS). The diagnostic criteria for each type of EDS are outlined in the International Classification of the Ehlers-Danlos Syndromes.
Treatment
There is no cure for EDS, so treatment focuses on managing symptoms and preventing complications. Treatment options may include:
- Physical therapy: To strengthen muscles and improve joint stability.
- Pain management: Medications and other therapies to alleviate pain.
- Assistive devices: Braces, splints, or wheelchairs to support joints and improve mobility.
- Surgery: May be necessary to repair damaged joints or tissues, but is generally avoided if possible due to tissue fragility.
- Monitoring for complications: Regular check-ups to monitor for cardiovascular, gastrointestinal, or other complications.
Ehlers-Danlos syndromes are a complex group of disorders that require specialized care and management. Early diagnosis and appropriate treatment can help improve the quality of life for individuals with EDS.
