Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissues in the body. Connective tissues provide support, structure, and elasticity to various organs, joints, blood vessels, and skin. EDS is characterized by a defect in the production, structure, or function of collagen, which is the main protein in connective tissues.
Symptoms of Ehlers-Danlos syndrome can vary widely depending on the specific type and severity of the condition. There are currently 13 recognized types of EDS, each with its own set of symptoms and complications. However, some common symptoms and features can be observed across different types:
- Joint hypermobility: One of the most prominent features of EDS is increased joint flexibility or hypermobility. This can lead to frequent joint dislocations, chronic joint pain, and early-onset osteoarthritis.
- Stretchy and fragile skin: Individuals with EDS often have soft, velvety, and hyperextensible skin that is prone to easy bruising, tearing, and scarring. Wounds may heal slowly, and some individuals may develop abnormal scarring, such as atrophic scars or widened scars.
- Easy bruising and bleeding: Due to the fragility of blood vessels, individuals with EDS may experience easy bruising and prolonged bleeding after injuries or surgeries. They may also be prone to developing abnormal blood vessels, such as varicose veins or arteriovenous fistulas.
- Fatigue and muscle weakness: Many individuals with EDS report chronic fatigue and muscle weakness, which can significantly impact their daily activities and quality of life.
- Chronic pain: Joint and muscle pain are common in EDS. This pain can be widespread, chronic, and debilitating, often affecting multiple areas of the body.
- Joint instability and dislocations: The laxity of connective tissues in EDS can lead to joint instability, frequent joint dislocations, and subluxations (partial dislocations). This can cause chronic joint pain, joint deformities, and functional limitations.
- Delayed motor skills development: In some types of EDS, particularly in the hypermobility type, children may experience delays in achieving motor milestones such as crawling, walking, or running.
- Cardiovascular complications: Certain types of EDS can affect the structure and function of blood vessels, leading to cardiovascular complications. These may include aortic root dilation, mitral valve prolapse, arterial dissections, and an increased risk of aneurysms.
- Gastrointestinal issues: EDS can affect the digestive system, leading to gastrointestinal symptoms such as chronic constipation, gastroesophageal reflux disease (GERD), and functional bowel disorders.
- Autonomic dysfunction: Some individuals with EDS may experience autonomic dysfunction, which can manifest as orthostatic intolerance (difficulty maintaining blood pressure upon standing), temperature regulation problems, and gastrointestinal dysmotility.
It is important to note that the severity and combination of symptoms can vary greatly among individuals with EDS. Some individuals may have mild symptoms that do not significantly impact their daily lives, while others may experience severe symptoms that require ongoing medical management and support.
If you suspect you or someone you know may have Ehlers-Danlos syndrome, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management strategies.