Ehlers-Danlos Syndrome (EDS) is a rare genetic disorder that affects the connective tissue of the human body. First described in 1901 by two doctors, Edvard Ehlers and Henri-Alexandre Danlos, this syndrome is characterized by joint hypermobility, skin fragility and a series of symptoms that vary in severity depending on the type of EDS that the patient presents. .
Types of Ehlers-Danlos Syndrome
Classic type Ehlers-Danlos syndrome (classic EDS)
Classic EDS is one of the most common types of this condition. It is characterized by soft, velvety-looking skin that is extremely elastic and prone to bruising. Patients with classic EDS also often present with joint hypermobility, which means that their joints have a very wide range of motion and may be prone to dislocations and subluxations.
Vascular type Ehlers-Danlos syndrome (vascular EDS )
Vascular EDS is a more serious and potentially fatal form of the disease. Patients with this type of EDS usually have arterial and other blood vessel fragility, which can cause serious complications such as rupture of blood vessels and internal organs. In addition to vascular fragility, the skin of patients with vascular EDS is also fragile and prone to hematoma formation.
Ehlers-Danlos syndrome hypermobility type (EDS hypermobility)
EDS hypermobility is primarily characterized by joint hypermobility, which means that patients' joints have excessive range of motion and may be unstable. In addition to hypermobility, patients with EDS hypermobility usually present with the soft, velvety skin characteristic of other types of EDS, as well as skin fragility and easy bruising.
Ehlers-Danlos syndrome, dermatosparaxis type (EDS dermatosparaxis)
EDS dermatosparaxis is a rare form of the disease characterized by extreme fragility of the skin. Patients with this type of EDS have extremely fragile and soft skin, with a great tendency to wounds and scars. In addition to skin fragility, patients with EDS dermatosparaxis may also have joint hypermobility and other symptoms common to other types of EDS.
Symptoms of Ehlers-Danlos Syndrome
The symptoms of Ehlers-Danlos Syndrome can vary depending on the type of EDS the patient has, but some of the symptoms common to all types include:
- Joint hypermobility
- Skin fragility
- Ease of bruising
- Wound healing problems
- Gastrointestinal problems, such as irritable bowel syndrome
In addition to the symptoms mentioned, patients with EDS may experience other health problems such as recurrent joint dislocations, scoliosis, heart problems, chronic fatigue and temporomandibular joint disorders.
Causes of Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome is a genetic disorder caused by mutations in the genes responsible for the production of collagen and other connective tissue proteins. Collagen is a protein essential in the structure and function of skin, bones, blood vessels and other tissues in the human body. When there is a mutation in the genes that code for collagen, an alteration occurs in the formation and structure of connective tissue, which leads to the characteristic symptoms of Ehlers-Danlos Syndrome.
Treatment of Ehlers-Danlos Syndrome. Ehlers-Danlos
Multidisciplinary approach
The treatment of Ehlers-Danlos Syndrome usually requires a multidisciplinary approach that includes the participation of different medical specialists. Some of the professionals who can be part of the treatment team for a patient with EDS are:
- Rheumatologists
- Geneticists
- Physiotherapists
- Orthopedic surgeons
- Cardiologists
- Psychologists or psychiatrists
Symptomatic treatment
Treatment of Ehlers Syndrome Danlos focuses on managing symptoms and preventing complications. Some of the therapeutic strategies that may be useful in the treatment of patients with EDS include:
- Physiotherapy to strengthen muscles and improve joint stability
- Occupational therapy to learn how to protect your joints in daily life
- Use orthopedic devices, such as splints or supports, to stabilize your joints
- Medication to control pain, inflammation, and other associated symptoms to EDS
- Surgical interventions in cases of serious complications, such as vascular fragility
Emotional and psychological management
In addition to medical treatment, it is important that patients with Ehlers-Danlos Syndrome receive emotional and psychological support to cope with the physical and emotional implications of the disease. Some patients with EDS may experience anxiety, depression, or difficulty adjusting to changes in their life due to the illness. Having the support of a mental health professional can be essential to improve the quality of life of these patients and help them cope with the challenges they face.
In conclusion, Ehlers-Danlos Syndrome is a genetic disorder that affects connective tissue and can have a significant impact on patients' quality of life. With a multidisciplinary approach, including medical treatment, physical and emotional therapies, it is possible to improve the quality of life of people affected by this disease and help them lead a full life despite the challenges they may face.