Ehlers-Danlos Syndrome: Causes, Symptoms, Diagnosis, and Patient Support

Ehlers-Danlos Syndrome (EDS) is a group of rare inherited diseases that affect connective tissue. It provides strength and elasticity to the skin, tendons, ligaments, blood vessels, and internal organs. When the structure of collagen, the main protein of connective tissue, is disrupted, the body loses its natural resistance, which leads to a variety of clinical manifestations.

The syndrome is estimated to affect approximately one in 5,000–10,000 people, but the actual prevalence may be much higher. This is because many cases go unrecognized due to the wide variability of symptoms and lack of specialized diagnostics.

Causes and heredity

EDS is genetically determined. It is most often transmitted in an autosomal dominant manner, when a mutation in just one gene is sufficient to develop the disease. In rare cases, recessive transmission occurs, when the mutation must be present from both parents.

The main ones are changes in the genes that encode collagen proteins (COL3A1, COL5A1, and others). This leads to disruption of the structure and function of connective tissue, making it excessively stretchy and fragile.

Main types of syndrome

Today, 13 subtypes of Ehlers-Danlos syndrome are identified. The most common of them are:

Symptoms

The clinical picture depends on the subtype, but common features can be identified. Most often, patients have:

• joint hypermobility and frequent subluxations

• elastic, thin and delicate skin

• increased tendency to bruise even from light blows

• problems with wound healing, formation of atrophic scars

• chronic pain in muscles and joints

• rapid fatigue and decreased physical endurance

Certain types of the syndrome can cause serious complications. The vascular variant, for example, is dangerous due to the high risk of rupture of arteries and internal organs. Patients are also often diagnosed with heart valve prolapse, aneurysms, chest deformities, scoliosis, glaucoma, and other vision problems.

Diagnostics

Early diagnosis of EDS is key to preventing complications. For this purpose, the following are used:

• clinical methods — assessment of joint mobility using the Beighton scale, skin examination, and symptom analysis

• family history study - whether there were similar cases in close relatives

• genetic testing — searching for mutations in relevant genes

• instrumental methods - echocardiography, MRI, vascular ultrasound to detect lesions of the cardiovascular system

The combination of clinical assessment and molecular diagnostics allows us to determine the specific subtype and choose the optimal treatment strategy.

Treatment and support

There is currently no cure for EDS. Treatment is aimed at reducing symptoms, preventing complications, and improving quality of life.

Main approaches:

• Physiotherapy — strengthening muscles, improving joint stability, learning movement control

• Orthopedic devices — orthoses and bandages to prevent dislocations and relieve joint strain

• Medications — painkillers and anti-inflammatory drugs, as well as medications that reduce the risk of vascular complications

• Surgical treatment — used only when absolutely necessary, as patients' tissues are fragile and do not hold sutures well

• Psychological help — working with chronic pain and stress is an important component of comprehensive care

Living with Ehlers-Danlos Syndrome

Patients with this diagnosis need to learn to adapt their lifestyle. It is recommended to avoid excessive physical exertion and contact sports, control weight, and undergo regular cardiovascular examinations. It is very important to receive psychological support, because living with chronic pain and limitations is often accompanied by anxiety and depression.

Properly selected rehabilitation, constant monitoring by doctors, and careful treatment of one's own body can significantly reduce the risk of complications and maintain a high quality of life even with such a difficult diagnosis.