Ehlers-Danlos syndrome

Ehlers-Danlos Syndrome: What It Is, How It Manifests, and Treatment Options

Ehlers-Danlos syndrome is a rare disease characterized by joint hypermobility and skin abnormalities such as hyperextensibility and fragility, which in some cases can lead to life-threatening complications.[1]

What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a group of disorders that affect the connective tissue in the body, responsible for maintaining the structure and function of the skin, joints, blood vessels, and other organs. This disease is caused by mutations in certain genes that are responsible for producing essential proteins for the structure and strength of connective tissues. Genetic mutations can be inherited from one or both parents, but there are also cases where they appear spontaneously.[1][2]

Types of Ehlers-Danlos Syndrome

According to the latest classification, there are 13 types of Ehlers-Danlos syndrome:

• classic Ehlers-Danlos syndrome;
• vascular Ehlers-Danlos syndrome;
• arthrochalasia Ehlers-Danlos syndrome;
• dermatosparaxis Ehlers-Danlos syndrome;
• cardiac-valvular Ehlers-Danlos syndrome;
• kyphoscoliotic Ehlers-Danlos syndrome;
• classic-like Ehlers-Danlos syndrome;
• myopathic Ehlers-Danlos syndrome;
• spondylodysplastic Ehlers-Danlos syndrome;
• musculocontractural Ehlers-Danlos syndrome;
• periodontal Ehlers-Danlos syndrome;
• spondylodysplastic Ehlers-Danlos syndrome;
• fragile cornea syndrome;
• hypermobile Ehlers-Danlos syndrome.[1][4]

The latter is considered the most common type of Ehlers-Danlos syndrome, estimated to affect 1 in 5000 people. Its exact prevalence is not known. Vascular and classic types are considered rare, and the others very rare.[1][4]

Signs and Symptoms of Ehlers-Danlos Syndrome

Each type of Ehlers-Danlos syndrome is associated with certain symptoms and characteristics. Some symptoms are common to all types, while others are observed only in certain forms of Ehlers-Danlos syndrome. Even within the same form of EDS, affected individuals can experience very different symptoms from one another.[3][4]

One of the most evident symptoms of Ehlers-Danlos syndrome is joint hypermobility, which involves an unusually high degree of joint movement. This is a distinctive symptom of the hypermobile type of Ehlers-Danlos syndrome. In infants and children, hypermobility may be accompanied by low muscle tone, known as hypotonia, which can delay the development of motor skills such as standing, sitting, or walking. Unstable joints prone to dislocations and chronic pain are other symptoms associated with this type of Ehlers-Danlos syndrome.[1][4]

The classic type of Ehlers-Danlos syndrome tends to affect the skin more. It is very elastic, hyperextensible, with a velvety texture and very fragile. Affected individuals tend to bruise easily, and skin lesions heal slowly, leaving extensive atrophic scars. Skin fragility is also a characteristic found in the dermatosparaxis type, where the skin is also lax, with additional folds.[1][4]

Unfortunately, EDS can also present severe complications, frequent in the vascular type. These can be caused by unexpected rupture of blood vessels and organs, resulting in bruising, internal bleeding, intestinal perforations, or strokes. Other types of EDS may have additional signs and symptoms, such as heart valve problems (cardiac-valvular type), severe early-onset periodontitis (periodontal type), severe vision problems and hearing loss (fragile cornea syndrome), congenital hip dislocation (arthrochalasia type), skeletal abnormalities (congenital kyphoscoliosis - kyphoscoliotic type), or short stature (spondylodysplastic type).[1][4]

The diagnosis of Ehlers-Danlos syndrome can be based on symptoms such as joint hypermobility, fragile or elastic skin, and family history of EDS. Genetic tests can confirm the diagnosis in rarer forms, but there are no genetic tests for the most common form of the disease, hypermobile Ehlers-Danlos syndrome.[2]

Treatment Options for Ehlers-Danlos Syndrome

There is no cure for Ehlers-Danlos syndrome. However, there are various treatment options that focus on managing symptoms and preventing potential complications. These may include pain medication, physical therapy, occupational therapy, and, in some cases, surgery.[1][2][3][4]

Physical therapy and occupational therapy play a crucial role in the treatment plan for patients with Ehlers-Danlos syndrome. These therapies aim to improve muscle strength, pain management, and flexibility. Therapists can instruct patients in joint protection techniques to prevent dislocations, which can be a common feature of this disease. Medications are another vital tool in managing Ehlers-Danlos syndrome. Many patients with this condition have increased sensitivity to pain, so medications can be used to help control it. Prescribed medications can vary depending on each patient's specific symptoms. In some cases, surgery may be necessary to treat complications associated with Ehlers-Danlos syndrome. The decision to perform surgery is often made after careful evaluation of the possible benefits and risks.[1][2][3][4]

For patients with Ehlers-Danlos syndrome, injury prevention is of major importance. It is recommended to wisely choose sports activities, avoid activities that may increase the risk of injury, and wear appropriate footwear to prevent sprains.[2]

Ehlers-Danlos syndrome, a rare genetic condition, manifests with varied symptoms, and although there is no definitive cure, there are treatment options aimed at alleviating symptoms and improving the quality of life for affected individuals. Each case is unique and requires a personalized approach!

References:

1. „Ehlers-Danlos Syndrome”, MedlinePlus Genetics, 2017. Accessed on June 19, 2024.
2. „Ehlers-Danlos Syndrome”, Mayo Clinic, 2022. Accessed on June 19, 2024.
3. „Ehlers-Danlos Syndromes”, NHS Choices, 2024. Accessed on June 19, 2024.
4. „What Is EDS?”, The Ehlers Danlos Society, April 30, 2024. Accessed on June 19, 2024.