Signs of Ehlers-Danlos Syndrome: What to Look For

ByAgkidzone Staff

Updated: Oct 26, 2024

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Ehlers-Danlos Syndrome (EDS) is a hereditary condition that impacts the skin and joint mobility due to abnormal collagen production. Collagen is a crucial component of connective tissue, abundant in the skin, joints, and blood vessels, providing strength and elasticity. Although EDS often develops in childhood, it usually isn't diagnosed until later years. The condition comes in various forms and severities, leading to a wide range of symptoms. Diagnosis is typically based on a physical examination, observing how the patient moves, and analyzing their medical history. Usually, a rheumatologist or physiotherapist makes the diagnosis rather than a general practitioner.

Joint Hypermobility

One of the hallmark signs of EDS is joint hypermobility or laxity. Small joints are especially more affected than large ones. While having flexible joints might sound great—especially if you're into gymnastics—it's a whole different ball game with EDS. If joints move too freely, it can cause significant pain and lead to frequent dislocations. Individuals with EDS are more prone to sprains and dislocations compared to healthy people, making everyday activities challenging. Consequently, joint stability becomes a major concern for those affected.

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Stretchy Skin

Another characteristic sign is unusually stretchy or velvety skin. Doctors often notice that their patients' skin feels exceptionally soft to the touch. Besides this distinctive texture, the skin may appear extremely wrinkled and brittle. Stretch marks can develop at an early age, and the skin may bruise easily. However, having skin issues doesn't automatically mean the joints will be affected, and vice versa. Therefore, symptoms can vary widely among individuals with EDS.

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Visual Signs

Since the eyes are rich in connective tissue, anyone with EDS should pay close attention to any visual disturbances, even if they don't involve vision loss. Ocular symptoms may include dry eyes, dislocation of the ocular lens, retinal hemorrhages, and macular degeneration. Consequently, an annual eye exam is recommended. Additionally, any changes like pain, redness, or shifts in visual acuity require immediate attention. Early detection can help manage these symptoms more effectively.

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Poor Wound Healing

In EDS, a minor injury can result in a disproportionate wound that refuses to heal properly. A slight bump might leave a significant mark or bruise. If stitches are needed, they may tear easily and leave prominent scars. Surgical procedures become more complex due to the fragility of the skin and the impaired healing process, which can lead to complications. Therefore, medical professionals need to exercise extra caution during surgeries and wound care.

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Pregnancy, Delivery, and Recovery Issues

Pregnancy isn't contraindicated for women with EDS, but it does pose additional risks. Gynecologists need to be aware of the condition during pregnancy. EDS can lead to premature births and complications for both mother and baby. Vaginal delivery may result in extensive perineal trauma and poor healing of episiotomies. On the flip side, cesarean sections can be complicated by hernias at the incision site and poor skin healing, as well as postpartum bleeding. Therefore, a carefully planned delivery method is crucial.

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Internal Bleeding

An extreme form of EDS is Vascular Ehlers-Danlos Syndrome, which affects blood vessels in key organs and can cause unpredictable ruptures. A torn artery may lead to internal bleeding, stroke, or shock, and is the most common cause of death in patients with this disorder. Rupture of the intestine occurs in 25 to 30 percent of affected individuals, and uterine tearing during pregnancy affects 2 to 3 percent of women. If an EDS patient experiences chest, abdominal, or neck pain, immediate medical evaluation with MRI or CT scan is essential. Early intervention can be life-saving.

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Flat Feet

While it might seem minor compared to other symptoms, flat feet are a common manifestation, affecting about 90% of adult EDS sufferers. Although flat feet can sometimes be painful, they usually don't cause significant discomfort. This issue is relatively easy to manage with arch supports or physical therapy, making it one of the less severe aspects of EDS. Nevertheless, proper foot care can improve overall mobility and reduce strain.

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Fast Heart Rate and Dizziness

Experiencing a rapid heartbeat and dizziness can be alarming. The natural reaction is to suspect a serious heart problem. In any case, anyone feeling abnormal heart rhythms and dizziness should seek medical assistance promptly. This EDS-related issue is known as Postural Orthostatic Tachycardia Syndrome (POTS). Doctors are trained to differentiate it from other heart conditions. Consequently, accurate diagnosis is crucial for effective management.

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Chronic Pain

EDS may lead to early and accelerated osteoarthritis due to joint instability. Besides joint pain, patients might experience increased stress on muscles and ligaments around the joints, as well as nerve-related pain. Chronic pain states can result in the pain-sensing system in the spinal cord and brain not functioning properly. Consequently, residual pain signals from healed injuries may become amplified, causing significant physical, emotional, and social challenges. Therefore, comprehensive pain management strategies are essential.

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Kyphoscoliosis

Skeletal deformities may be apparent at birth, including abnormal sideways curvature of the spine, known as congenital scoliosis, which can progressively worsen. This condition is generally associated with diminished muscle tone, or hypotonia. In children with EDS, severe hypotonia may delay the acquisition of certain motor skills. Affected adults may lose the ability to walk by their second or third decade of life. Therefore, early intervention and physical therapy are crucial to maintain mobility.

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