yogabook / pathology / ehlers-danlos-syndrome
Definition
Strictly speaking, there is not just one Ehlers-Danlos syndrome, but different forms with corresponding focal points. A distinction is currently made between 13 subtypes:
- classical (cEDS)
- similar to classic (clEDS)
- cardiovascular (cvEDS)
- vascular (vEDS)
- hypermobility (hEDS)
- Arthrochalasia (aEDS)
- dermatosparaxis (dEDS)
- kyphoscoliotic (kEDS)
- Brittle cornea syndrome (BCS)
- spondylolysplastic (spEDS)
- musculocontractual (mcEDS)
- myopathic (mEDS)
- periodontal (pEDS)
The types differ in terms of inheritance (autosomal dominant or autosomal recessive), the altered genes and the proteins and structures affected.
If the criteria for EDS are not met, but there is still pronounced hypermobility, it is referred to as hypermobility syndrome (hypermobility spectrum disorder), which at 1:500 is significantly more common than EDS at 1:5000. As the disorder is inherited, it is common to find family members with symptoms from the broad spectrum of EDS, see below. Not everyone with the same EDS subtype within a family necessarily has the same symptoms. The possible symptoms are listed below.
It is not uncommon for comorbidities to occur such as
- ADD/ADHD
- Autism spectrum disorders
- CE/MFS
- Dysregulation of the ANS
- GIT diseases
- idiopathic intracranial hypertension
- Ostoporosis, osteopenia
- CMD
- Fibromyalgia
- Instability of the upper cervical joints
- POTS
- Sleep apnoea syndromeSpontaneous cerebrospinal fluid leaks
- CRPS
- Mental symptoms, especially depression
- and other illnesses
The diagnosis is made according to the criteria catalogue of the International Consortium on the Ehlers-Danlos Syndrome. All but the hEDS subtype can be confirmed by genetic diagnostics.
Due to the versatility of the syndrome, the first symptoms appear in childhood, but the time-consuming and complex diagnosis often only occurs decades later in adulthood. In between, there are often misdiagnoses and incorrect treatments.
Symptoms
- Pain of the movement system, acute or chronic
- Damage to the soft tissues of the musculoskeletal system such as muscle fibre tears, tendon tears
- Subluxations and dislocations of joints
- Tendinitis, bursitis
- Hypermobility of joints
- Axial deviations, misalignments such as scoliosis
- Fatigue
- Bladder dysfunction
- Dysfunction of the blood clotting
- Malfunction of the proprioception
- Hernias (inguinal hernia, diaphragmatic hernia)
- Prolapse (uterus, bladder)
- Ruptures (e.g. bowel, uterus)
- Tendency to haemorrhage and bruising
- Tendency to oedema
- Overstretched thin skin
- Vascular ageing (such as aneurysms, ruptures, varices)
- Delayed wound healing, altered scarring
- Abnormalities of the heart valves
- Altered reaction to medication
- Voice, speech and swallowing disorders
- Nerve irritation, for example due to mechanical irritation (constriction)
Therapy
- A causal therapy does not exist
- type-dependent and individually determined lifelong measures of symptomatic therapy, physiotherapy, osteopathy, occupational therapy, speech therapy, rarely also chiropractic.
- Measures to promote proprioception
- Stabilising movement therapy
- multimodal pain therapy
- pelvic floor training
- physical therapy
- Orthopaedic aids
- if necessary pyschotherapy
- Regular health checks
- A variety of other supportive measures if necessary
- Surgery only after careful risk-benefit assessment and with prehabilitation and rehabilitation
DD
- Marfan syndrome
- Chondrodysplasia
- Osteogenesis imperfecta
- rheumatoforme Erkrankungen