Identifying Ehlers-Danlos Syndrome: Symptoms and Diagnostic Steps

Ehlers-Danlos Syndrome (EDS) is a group of heritable connective tissue disorders that affect the quality and production of collagen. This condition can manifest in a variety of symptoms, and proper identification is crucial for effective management. This article explains how to recognize the common symptoms of EDS, the different subtypes, and the diagnostic process.

Part 1: Finding Common Symptoms

The most visible signs of EDS are shared among the six subtypes, with one of the most common being hypermobile joints. This refers to joints that are overly flexible or extend beyond their normal range, often referred to as being 'double-jointed.'

1. Identifying Hypermobile Joints

The hallmark sign of hypermobile EDS is the presence of hypermobile or 'loose' joints. This can be observed when one can bend their joints past their normal range, such as bending their little fingers back more than 90 degrees, bending elbows or knees backward, or having joints that feel unstable and prone to dislocating.

Other symptoms include joint pain and susceptibility to injuries. People with EDS may also suffer from chronic joint pain or develop early onset osteoarthritis.

2. Noting Stretchy Skin

People with EDS often have distinctive skin, characterized by its ability to stretch more than normal and appear very soft, shiny, and highly elastic. The skin may also spring back into place when stretched, and in some cases, it may be exceptionally soft, thin, elastic, or loose. A diagnostic test can be performed by pinching a small area of skin on the back of the hand and seeing if it snaps back immediately.

3. Beware Fragile Skin and Easy Wounding

Another related symptom of EDS is fragile skin that bruises or splits easily and takes longer than usual to heal, leading to severe scarring over time. Skin fatigue, prolonged bleeding after trauma, and the formation of "parchment-like" scarring are also common.

For individuals with EDS, the skin may be fragile enough to tear or break open with slight force. It may also take a while to heal, and in some cases, stitches may tear out, leaving a large scar. People with EDS may also have distinct scars that are described as looking like "parchment" or "cigarette paper," which are long, thin, and form where the skin has split open.

Part 2: Identifying Subtypes of EDS

1. Noting Indications of Hypermobility

Hypermobility is the least serious of all EDS subtypes but can still have significant effects, primarily on the muscles and skeleton. The main indication is joint hypermobility; however, there may be additional signs, such as frequent dislocations of the shoulder or patella with pain and the development of osteoarthritis. Chronic pain is also a primary sign, which can be severe and disabling.

2. Reading Signs for the "Classical" Subtype

The "classical" version of EDS typically shows common skin and joint symptoms. However, other associated signs include scars over pressure points like the knees, elbows, forehead, and chin, which may have hardened calcified bruises. Some people may also develop "spheroids" on the forearms or shins, which are small movable cysts containing fat.

People with this subtype may also have poor muscle tone, fatigue, and muscle cramps. In severe cases, they may suffer from hiatal hernias or anal prolapse.

3. Looking for Vascular Complications

Vascular EDS is the most dangerous subtype as it affects internal organs and can lead to complications such as internal bleeding or death. Most people with this subtype experience a complication by age 40. Symptoms include thin and translucent skin with visibility on the chest, short stature, thin hair, large eyes, a small nose, and ears without lobes.

Other signs include clubfoot, joint looseness, limited finger movement, premature skin aging on the hands and feet, and early varicose veins. The most serious signs involve internal injuries, easy bruising, and the risk of arteries rupturing or collapsing without warning, which is the leading cause of death for those with this subtype.

The kyphoscoliosis subtype is characterized by sideways curvature of the spine, scoliosis, which is present at birth or within the first year and progressive, leading to adulthood. People with this subtype often have severe joint looseness and poor muscle tone at birth, which can delay motor skills development.

The arthrochalasia subtype is identified by frequent hip dislocations starting from birth. This is associated with skin elasticity, easy bruising, and fragile tissue. Besides hip dislocations, this subtype can also include poor muscle tone and scoliosis.

The last and rarest subtype is the dermatosparaxis subtype, named for its skin symptoms. People with this subtype have more fragile skin and severe bruising than others but exhibit less elasticity and have lessened skin firmness. Common symptoms include soft, jelly-like skin that sags, and a higher likelihood of large hernias. People with dermatosparaxis EDS may heal normally and do not scar like in other subtypes.

Part 3: Confirming the Diagnosis

To confirm EDS, it is essential to consult with a healthcare professional. A series of questions about medical and family histories, as well as a thorough examination and blood test, will be conducted. If you suspect you or a loved one may have EDS, it is important to seek medical advice from a doctor who may refer you to a specialist in genetic diseases.

Your doctor will inquire about symptoms such as joint flexibility, skin elasticity, and healing. They may also ask about medications and family history. Look for a family connection to EDS as the syndrome is genetic and can be passed down through generations.

3. Having Genetic Testing

While a specialist can typically make a diagnosis based on skin, joint symptoms, and family history, genetic testing can provide a more definitive diagnosis. Genetic tests can confirm various subtypes of EDS, including Vascular, Kyphoscoliosis, Arthrochalasia, Dermatosparaxis, and sometimes Classical EDS. These tests are usually performed by providing a sample of blood, saliva, or skin to a clinical geneticist or genetic counselor for laboratory testing.

Genetic testing is not always 100% accurate and should be conducted conservatively to either confirm or rule out a diagnosis. It is essential to consult with a healthcare professional to determine if genetic testing is the right step for you or a loved one.