Guide to Ehlers-Danlos Syndrome clinical features
Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders characterized by a spectrum of clinical features that vary widely among individuals. These features primarily involve the skin, joints, and blood vessel walls, reflecting the underlying defect in collagen synthesis or structure. Recognizing the distinct manifestations of EDS is crucial for diagnosis, management, and genetic counseling.
One of the hallmark features of many EDS types is hyperextensible skin, which can be stretched significantly beyond normal limits. The skin often appears soft, velvety, and fragile, with a tendency to bruise easily due to fragile blood vessels. Patients may also exhibit skin that is slow to heal after injury, leading to characteristic atrophic scars that are thin and widened, sometimes described as “cigarette paper” scars. These features can sometimes be mistaken for other skin conditions, but their combination with joint and vascular symptoms helps in diagnosis.
Joint hypermobility is another prominent feature, frequently causing joint instability, dislocations, and chronic pain. Patients with EDS may experience frequent subluxations or complete dislocations, especially in the fingers, knees, shoulders, and hips. The hypermobile joints can lead to early-onset osteoarthritis, further impairing mobility over time. This joint laxity is often accompanied by soft tissue injuries, such as sprains and tendon tears, due to the abnormal collagen integrity.
Vascular fragility is a defining concern in specific types of EDS, particularly the vascular form (vEDS). Individuals with vEDS face risks of spontaneous arterial rupture, aneurysms, and bleeding episodes, which can be life-threatening. Signs may include easy bruising, thin translucent skin revealing underlying blood vessels, and characteristic facial features such as thin lips and a narrow nose. These vascular complications necessitate careful monitoring and sometimes surgical intervention.
Other clinical features may include dental abnormalities like fragile gums and delayed wound healing, as well as features affecting the musculoskeletal system such as flat feet and scoliosis. Some patients experience gastrointestinal issues, including hernias and diverticulosis, reflecting connective tissue weakness in the digestive tract. Additionally, certain forms of EDS involve the eyes, with instances of myopia, lens dislocation, or early-onset glaucoma.
While the severity and specific features vary among the different types—such as classical, hypermobile, vascular, kyphoscoliotic, and others—the common thread is the abnormal collagen structure or production that underpins the disorder. Diagnosis relies on clinical assessment, family history, and molecular testing where available. Management primarily focuses on symptom control, injury prevention, and regular monitoring for vascular complications. Physical therapy, supportive devices, and sometimes surgical procedures can improve quality of life, while genetic counseling provides vital information for affected families.
Understanding the diverse clinical features of Ehlers-Danlos Syndrome helps clinicians recognize this complex disorder early, facilitating better management and improved patient outcomes.
