Ehlers-Danlos syndrome is classified as a rare disease with a genetic basis. Changes in the genetic material caused by various factors can dramatically affect the functioning of the entire organism. Ehlers-Danlos syndrome is characterised by problems in the synthesis of collagen, which determines, among other things, the proper functioning of connective tissue.
Table of contents:
- Ehlers and Danlos - two discoverers of an unknown disease
- What are the causes of Ehlers-Danlos syndrome?
- How common is Ehlers-Danlos syndrome?
- What symptoms does EDS produce?
- Clinical picture
- Clinical forms of EDS
- Diagnosis
- Treatment of Ehlers-Danlos syndrome
Ehlers and Danlos - two discoverers of an unknown disease
The first mention of the disease that later became known as Ehlers-Danlos syndrome was recorded in 1862. Subsequent mentions of patients whose symptoms could be attributed to EDS syndrome were reported in 1892 and again in the early 20th century, when the same disease symptoms were independently described by Edvard Lauritz Ehlers and Henri Alexandre Danlos.
What are the causes of Ehlers-Danlos syndrome?
EDS syndrome is caused by genetic changes within the gene encoding collagen. Collagen that is formed in the body undergoes so-called post-translational processing to ensure that it is functional and 'useful' to the body. The result of the synthesis of malfunctioning collagen is problems in joint function. Collagen is one of the components that provide adequate strength and flexibility to joints, tendons and ligaments. Unfortunately, when the body synthesises a faulty version of collagen, tendons, ligaments, bones, cartilage and even the skin, which also contains collagen in its structure, begin to show abnormal functioning.
How common is Ehlers-Danlos syndrome?
It is estimated that the disease is very rare, affecting 1 child in approximately 10000 births. The disease is inherited in an autosomal dominant manner, with some exceptions to the rule.
What are the symptoms of EDS?
Patients suffering from Ehlers-Danlos syndrome suffer from a number of conditions, among which are the following:
- chronic pain in the joints, spine, tendons, skin, genitals, breasts,
- problems staying in one position,
- fatigue and excessive sleepiness,
- extremely high joint mobility, hence easy to get sprains, dislocations, subluxations, scoliosis, pseudo-torsions,
- instability, problems walking, bumping into obstacles,
- extremely fragile and delicate skin, easily injured, prone to the appearance of bloody petechiae, bruises,
- problems with thermoregulation - excessive sweating, freezing, shivering,
- cardiovascular problems - hypotension, fragility of veins, varicose veins, valvular incompetence, cardiac arrhythmias,
- gastrointestinal symptoms, gallstones, reflux,
- painful urination, urinary incontinence, urinary tract infections,
- soreness of the gums, gingivitis, tooth brittleness, temporomandibular joint sprains,
- hypersensitivity to light,
- shortness of breath, difficulty breathing, emphysema, hoarseness, asthma, breathlessness,
- gynaecological-obstetric problems,
- problems with the effects of lidocaine and novocaine in the administration of anaesthesia,
- extremely flexible nose,
- fever attacks without infection.
Clinical picture
At present, 10 types of EDS have been described, with symptoms mainly affecting the skin, ligaments and joints. Joint hypermobility is assessed according to the Beighton criteria, where assessments include hypertrophy at the knee joint, hypertrophy at the elbow joint, the ability to passively draw the thumb to the forearm, the ability to passively bend the fingers of the hand dorsally parallel to the forearm, the ability to lay the hand flat on the floor in deep flexion with the knee joints straight, and dorsal flexion of the feet above 200 from a right angle. The clinical picture also assesses the condition of the bowel, the presence of possible ocular defects, e.g. retinal detachment.
What is Ehlers-Danlos syndrome, photo: panthermedia
Clinical forms of EDS
Classical form - there is excessive joint mobility, ease of bruising, petechiae, relatively rapid onset of skin injuries.
Vascular form - characterised by a severe course, there are problems with abnormal vasculature (arteries, veins, vascular fistulas), mitral valve leaflet prolapse, bowel perforation, possibility of uterine rupture, aortic dissection, bowel perforation with haemorrhage into the abdominal cavity.
Diagnostics
A method to unequivocally diagnose the disease is to perform genetic testing to confirm a mutation within the genes encoding collagen synthesis or involved in the post-translational processing of collagen.
Patients who have EDS syndrome should be under the constant care of a GP, orthopaedic surgeon and physiotherapist. In addition, they should be under the care of a genetic clinic. Extraordinary attention should be given to pregnant women who suffer from EDS - the risk of uterine rupture and premature birth is relatively high. Pregnant women should be under the care of a cardiologist and a caesarean section is advisable.
Treatment of Ehlers-Danlos syndrome
At present, as with most genetic diseases, no effective drug has been found to provide a 100% cure. The only form of treatment is the use of methods to alleviate the discomfort associated with EDS syndrome. Patients are given preparations containing hyaluronic acid to help regenerate cartilage and reduce joint changes. Patients are required to regularly consume vitamin C, which is essential for collagen synthesis and post-translational processing. Importantly, patients are also given painkillers to improve comfort. From the data available on the websites of foreign centres, it appears that research into gene therapy is already underway - perhaps the coming years will bring a huge turnaround in the treatment of patients suffering from Ehlres-Danlos syndrome.