Ehlers-Danlos syndrome is a group of systemic diseases that affect the connective tissue. This syndrome develops because of a hereditary defect, which leads to a violation of collagen synthesis. The severity of the symptom depends on the specific mutation, it can be both moderate and dangerous for life. Treatment for this syndrome has not yet been found, because only care for the patient and preventive measures are supposed, which allow to mitigate the consequences of the development of the disease.
There are quite a few synonyms, which denote the same disease, the most famous of them is "hyperelasticity of the skin".
- How does the disease manifest itself?
- Classification of
- syndrome Classical type
- Vascular type
- Type of kyphoscoliosis
How does the disease manifest itself?
Symptoms depend on the type of disease, but in any case it is caused by a deficiency or damage to type III collagen. Usually the disease leads to skin damage, joints, blood vessels. The most notable manifestation in this case are excessively loose and too mobile joints, which seem to be poorly "attached".Skin in people with this syndrome is usually elastic and smooth, while it is very easily damaged, and the wounds heal badly, scars are formed. Bloody joints with such a disease become brittle, they are smaller in size than they should be.
But the common manifestation of this disease, which is observed irrespective of its type, is the hypermobility of the joints, in this case they are not limited to the standard range of movements and are able to easily go beyond it. Because of this, people with this disease often suffer from various joint injuries - the usual "case" is sprains, subluxations and dislocations of the joints, and in some cases soft tissue ruptures are possible.
It should be noted that this disease is not always diagnosed in time, which is why children suffer numerous injuries and others perceive the situation as cruel treatment of children. In fact, the cause of numerous scars and dislocations are ordinary children's games, just increased skin vulnerability and improper healing of wounds lead to the formation of numerous scars, and "unreliable" joints often do not withstand ordinary moving games.
Ehlers-Danlos syndrome also imposes restrictions on surgical treatment - patients tend to have slight bleeding, thin skin tears when suturing, and the internal organs of a person are very easily traumatized and slowly heal.
Classification of the
Earlier the Ehlers-Danlos syndrome was divided into 10 universally recognized types, but later a new classification was developed, in which only 6 types were distinguished, the remaining 4 were recognized as "conditionally existing", but they practically did not occur. . Also in this classification typesthe diseases were given descriptive names:
- classical( previously 1 and 2 type);
- hypermobility( previously 3 type);
- vascular( type 4);
- kyphoscoliosis( 6th type)
- arthrohalasia and dermatospasis( formerly types 7A, B and C).
According to the old classification it was divided into heavy and moderate. In prevalence - the second after hyper mobility. This type of syndrome affects collagen I and V type, and the key symptoms extend to the joints and skin. So, the main manifestations of this type of disease are:
- excessively elastic, smooth and easily damaged skin;
- after any wounds, large ugly scars are formed, most noticeable on the elbows, knees, forehead and chin;
- joints are hyper-mobile because stretching of ligaments, subluxations and dislocations are frequent( the knee cap, shoulder joints, temporo-jaw and metacarpophalangeal joints most often suffer);
- children are often prone to the displacement of internal organs, the development of hernia, in infants often lagging behind the development of motor skills due to decreased muscle tone.
At the moment there are no such diagnostic tests that would allow to accurately determine this type of syndrome. Therefore, biochemical studies and DNA analysis are carried out for diagnosis.
Formerly classified as type 3, being the most common variant of this syndrome Ehlers - Danlos. Manifestations of this type are often not recognized by doctors, because of what the fibromyalgia is mistakenly diagnosed. Treatment, respectively, does not give results, and the correct diagnosis is made after the appearance of complications. The basis of diagnosis is primarily clinical observations. The main manifestations of this type of disease are:
- unstable and excessively loose joints prone to overextension, sprains, subluxations and dislocations;
- narrow and high sky;
- flat feet;
- velvety-smooth skin, which is easily damaged;
- flat feet, as well as a fairly early development of osteoporosis( under the age of 30 years);
- various heart lesions.
Symptoms such as muscle weakness, excessive fatigue, osteopenia, various deformities of the spine, neuralgia, myalgia, Raynaud's disease can also be observed. One of the serious complications of this condition is a fairly strong pain syndrome.
In the former classification designated as type IV, caused by a defect in the synthesis of type III collagen, considered to be, although not the most common, but the most dangerous type, according to statistics, life expectancy in this case rarely exceeds 48 years. The situation is aggravated by the fact that a full-fledged treatment for such a disease has not been developed, so we have to confine ourselves to eliminating the manifestations of the disease. Symptoms of this type of disease:
- - tender skin, as well as fragile walls of vessels and membranes of internal organs are prone to ruptures and the formation of an aneurysm;
- hypermobility, which is especially noticeable on the fingers and toes;
- skin in patients with this type of disease is often so thin that through it veins are easily seen;
- there are extensive bruising;
- people with this type of syndrome have a characteristic appearance - low growth, small chin, large eyes, thin lips and nose.
For patients with this disease, pregnancy can be extremely dangerous because of the high probability of uterine rupture.
Type of kyphoscoliosis
Extremely rare type of Ehlers-Danlos syndrome, which in the previous classification was designated IV.The main symptom of this condition is the fragility and instability of the joints. Infants experience a delay in the development of motor skills due to low muscle tone, a constantly progressing scoliosis, which can immobilize a patient when young. Skin covers and eyes are easy to clean, blood vessels become brittle, spontaneous vitreous hemorrhage, retinal detachment, eyeball ruptures, etc. are possible.
This syndrome is diagnosed with a laboratory test if there are at least three main symptoms of the four listed above. An intrauterine analysis can also be carried out in cases where one of the members of the family suffers from this disease.