Ehlers-Danlos syndrome (EDS) is a congenital, rare and inherited connective tissue disorder. Connective tissue is found throughout the body, so the symptoms of this disease are varied. There may be overstretched, easily injured skin as well as tearing of internal organs, ligaments, tendons and blood vessels. In addition, the disease is characterized by hypermobile joints.
Causes of Ehlers-Danlos syndrome.
There are several forms of Ehlers-Danlos syndrome, but their causes are not fully understood. In some forms of EDS, the cause is thought to be a genetic disorder of collagen in connective tissue. Collagen is a fibrous protein that is a component of skin, tendons, ligaments, joints, etc. and is responsible, among other things, for the elasticity of the skin. For other types of EDS, the causes are as yet unclear.
Ehlers-Danlos syndrome: symptoms.
The symptoms of EDS can be more or less pronounced and can vary widely. Thus, signs may occur to varying degrees in each type. Typical symptoms include:
- Hypermobile joints
- Overstretched and easily injured skin
- Poor wound healing and scarring
- Tendency to bruise
- Involvement of the internal organs (for example, changes in the heart valves, vasodilatation, hernias).
In addition, depending on the type of EDS, other symptoms may occur.
Diagnostic criteria of Ehlers-Danlos syndrome.
In March 2017, new diagnostic criteria were published that allow a comprehensive and specific classification of the disease. According to these criteria, 13 types of Ehlers-Danlos syndrome are now distinguished, although there is as yet no German translation for these:
- Classical EDS (cEDS)
- Classical-like EDS (clEDS)
- Cardiac-valvular EDS (cvEDS)
- Vascular EDS (vEDS)
- Hypermobile EDS (hEDS)
- Arthrochalasio EDS (aEDS)
- Dermatosparaxis EDS (dEDS)
- Kyphoscoliotic EDS (kEDS)
- Brittle comea syndrome (BCS)
- Spondylodysplastic EDS (spEDS)
- Musculocontractural EDS (mcEDS)
- Myopathic EDS (mEDS)
- Periodontal EDS (pEDS)
Often, the symptoms do not allow a clear assignment to one of the types – the classification is therefore seen more as a rough guideline and the research on the types is considered far from complete.
EDS: The Villefranche classification.
Until 2017, a distinction was made between a small number of different forms of Ehlers-Danlos syndrome, known as the Villefranche classification, which is still established in Germany. This classification includes the following types and their typical symptoms:
- Classic type: types I and II (highly overstretched and easily injured skin, tendency to bruise, poor wound healing, hypermobility of the joints, internal organs and vessels may also be affected, symptoms are not as pronounced in type I as in type II).
- Hypermobile type: type III (low involvement of the skin, pronounced hypermobility of the joints with frequent dislocation, chronic muscle and joint pain, deformation of the spine and extremities.
- Vascular type: type IV (hyperextensible and thin, translucent skin, tendency to bruise, hypermobility of small joints, internal organs and vessels may also be affected).
- Kyphoscoliotic type: type VI (moderate to severe hyperextensibility of the skin, poor wound healing, extremely overmobile joints, the eyes as well as internal organs may also be affected).
- Arthrochalasic type: type VII A/B (low to moderate hyperextensibility of the skin, elastic and thin skin, poor wound healing, pronounced overmovement of the joints with frequent dislocation of the hip).
- Dermatosparaxis type: type VII C (very sagging and drooping skin, pronounced hypermobility of the joints, internal organs may also be affected).
Of these forms of EDS, the Hypermobile and Classical types appear most frequently. Within this classification, other exotic types are also distinguished, but they are extremely rare.
Diagnosis of EDS
The presence of clinical symptoms and criteria per type are crucial for the diagnosis of EDS. In addition, family history may provide further information in establishing the diagnosis.Various examinations (partly to exclude other diagnoses), a genetic test or a skin biopsy, in which the chemical structure of the collagen in the skin is checked, can also be used in the diagnosis. The hyperextensibility of the joints can be tested using the so-called Beighton score. In practice, the diagnosis is usually not made on the basis of the typical symptoms, but rather on the basis of an unusual occurrence of various symptoms, which puzzle those affected and are the trigger for an often long search for the causes. Furthermore, the correct diagnosis is complicated by the fact that the majority of all doctors do not know enough about the disease due to its rarity. Affected persons therefore go through an often years-long odyssey until a diagnosis is found.
Ehlers-Danlos syndrome: therapy.
There is no cure for EDS. Patients with the vascular type are considered to be most at risk for health problems. Therefore, these require intensive medical care. Basically, treatment for all EDS sufferers focuses on symptom relief. Thus, monitoring of the cardiovascular system, physiotherapy or orthopedic aids such as bandages can support the therapy. In contrast, movements involving hyperextension or joint locking should be avoided. If possible, surgical interventions should only be performed in centers with sufficient expertise in the treatment of Ehlers-Danlos syndrome. Furthermore, emotional support from family members and friends is particularly important for affected individuals to cope with the disease. Similarly, behavioral therapy and psychological care can be helpful.
EDS: What you can do yourself
To make life with the disease easier for yourself as an EDS sufferer, some of the things you can do include the following:
- Avoidance of excess weight
- Smaller meals are recommended
- An osteopathic treatment
- Regular check-ups of the eyes, teeth, heart and other internal organs.
- Use ergonomic aids
- Shoe insoles if necessary
- Always carry the emergency ID card
Sports with EDS
Especially children and adolescents, but also many adults, like to engage in sports, where minor injuries can quickly occur. For patients affected by Ehlers-Danlos syndrome, as well as for the social environment, it is therefore of great importance to develop an understanding of the disease. As far as sports activities are possible, it is recommended:
