Ehlers-Danlos Syndromes (EDS) are a group of inherited disorders that affect the body’s connective tissues. This condition is genetic and chronic, resulting in structural weakness across the entire body because connective tissue provides the framework for organs, skin, bones, and blood vessels. These syndromes are clinically diverse, with manifestations ranging from increased joint flexibility to life-threatening complications.
The Core Issue: Connective Tissue and Collagen
The root cause of Ehlers-Danlos Syndromes is a disruption of the body’s connective tissue, which acts as the structural scaffolding. This tissue is primarily composed of proteins, notably collagen and elastin, that provide strength, support, and elasticity to biological structures. Collagen is the most abundant protein in the body, forming strong, flexible fibers that hold cells and tissues together.
EDS is caused by genetic mutations that affect the production or processing of collagen and related proteins. Many types of EDS are linked to mutations in specific COL genes, such as COL5A1 or COL3A1, which code for different types of collagen. This genetic error results in collagen that is either insufficient in quantity or structurally weak, leading to instability and fragility in the affected tissues.
Recognizing the Signs of EDS
The physical presentation of Ehlers-Danlos Syndromes stems directly from underlying tissue weakness, leading to a wide array of symptoms. One common feature is generalized joint hypermobility, where joints move beyond the normal range of motion due to lax ligaments and tendons. This hypermobility often results in joint instability, frequent partial or full dislocations, which can cause widespread, chronic musculoskeletal pain.
The skin is also significantly affected, often described as soft, velvety, and unusually stretchy or hyperextensible. Patients frequently experience fragile skin that tears easily and wounds that heal slowly, leading to thin, widened, and depressed scars known as atrophic scars. Easy bruising is another prominent sign due to delicate blood vessels that lack adequate support.
Beyond the musculoskeletal and skin manifestations, many individuals experience associated conditions referred to as comorbidities. These can include autonomic dysfunction, such as Postural Orthostatic Tachycardia Syndrome (POTS), which causes dizziness and a rapid heart rate upon standing. Gastrointestinal issues and signs related to Mast Cell Activation Syndrome (MCAS) are also commonly reported, reflecting the systemic nature of the syndrome.
Understanding the Major Types of EDS
The Ehlers-Danlos Syndromes are organized into 13 distinct types, each defined by specific clinical features and, for most, a known genetic mutation. The most common type is Hypermobile EDS (hEDS), which is unique because its specific causative gene remains unknown, requiring a clinical diagnosis. HEDS is characterized primarily by pronounced joint hypermobility and chronic pain, but it is not typically associated with the severe tissue fragility seen in other forms.
In contrast, Classical EDS (cEDS) is defined by marked skin hyperextensibility, atrophic scarring, and generalized joint hypermobility. This type is generally caused by mutations in the COL5A1 or COL5A2 genes, which affect Type V collagen.
A more serious type is Vascular EDS (vEDS), caused by mutations in the COL3A1 gene. VEDS primarily impacts Type III collagen, leading to extreme fragility of blood vessels and hollow internal organs like the intestines and uterus. This fragility creates a risk for arterial rupture, organ perforation, and other serious vascular complications, making it the most severe form. The existence of 13 distinct types, including Kyphoscoliotic EDS, Arthrochalasia EDS, and Dermatosparaxis EDS, demonstrates the complexity of this group of disorders.
Diagnosis and Ongoing Management
The diagnostic path for Ehlers-Danlos Syndromes varies depending on the suspected type. For the 12 genetically defined types, diagnosis is confirmed through targeted genetic testing, which identifies the specific gene mutation responsible for the condition. This genetic confirmation is a definitive step.
Hypermobile EDS (hEDS) is an exception, requiring a thorough clinical evaluation based on the 2017 diagnostic criteria, as no single genetic marker has been identified. This clinical assessment involves quantifying joint hypermobility using the nine-point Beighton score, with specific cutoffs based on age and sex. The diagnosis also requires the presence of other systemic manifestations, a detailed family history, and the exclusion of other connective tissue disorders.
Management of EDS is supportive and requires a multidisciplinary team approach tailored to the individual’s specific symptoms and type. Physical therapy is a cornerstone of care, focusing on low-impact exercises to strengthen the muscles surrounding the joints to improve stability. Pain management strategies are also essential to address chronic, widespread pain.
Preventative care is important, including avoiding high-impact activities that increase the risk of joint injury or dislocation. For individuals with vEDS, regular cardiovascular monitoring, such as echocardiograms, is necessary to screen for aortic dilation or arterial fragility. Occupational therapy and lifestyle adjustments help patients manage daily activities and conserve energy.