Ehlers-Danlos syndrome - an inherited heterogeneous disease, which manifests itself giperelastichnostyu skin, which is associated with a defect in the formation of collagen.Ehlers-Danlos syndrome has different types of inheritance and desmogenez imperfect form. This pathology is dependent on the individual mutations, and can manifest as a mild course of illness and life-threatening.
Ehlers-Danlos syndrome is considered to be the most common disease of the connective tissue and is found in a ratio of 1: 100,000 births.Special treatment methods do not exist only in the form of maintenance therapy, which can mitigate the consequences of disease.
Ehlers-Danlos syndrome causes
At various times, the study of hereditary diseases, Ehlers-Danlos syndrome classification existed, which was isolated for three to eleven types of the disease.As the accumulating molecular genetic data, there was a need to revise previous versions departments Ehlers-Danlos syndrome.Therefore, even
Ehlers-Danlos syndrome has different types of inheritance for each type.Autosomal dominant characteristic of the first, second, third, fourth, seventh and eighth, and autosomal recessive inheritance - for the sixth, X-linked - for the fifth and ninth and the tenth has no set type of inheritance, as is quite rare.
This disease is an example of a different locus heterogeneity.It is these loci in which there are abnormal changes cause Ehlers-Danlos syndrome, are directly related to the formation of connective tissue proteins (collagen).These collagen fibers, resulting in mutations are of irregular shape and randomly arranged.Also mutated genes cause in the occurrence of Ehlers-Danlos syndrome are those mutations in genes that are localized to the extracellular matrix proteins, and among them are - tenascin X lyumikan and decorin.
Ehlers-Danlos Syndrome symptoms
main clinical symptoms of the disease manifests itself in the form of certain disorders of the joints and on the part of the skin that are characterized giperrastyazhimost.
takes quite a long healing of wounds, even minor cuts, it is also possible divergence of postoperative sutures.As a result, atrophic scars are formed in the form of tissue paper.Such scars are beginning to manifest in those places that are most affected.
For example, the child is the forehead, elbows, knees, after making their first attempts at crawling and walking.The skin in these places during the Ehlers-Danlos syndrome is very thin.Some patients are determined by the small size of subcutaneous nodules in the form of cysts.They are easily palpated on the forearms and shins.The occurrence of these nodes is associated with impaired circulation and the formation of fibrous subcutaneous lobules, which are then subjected to calcification.Defects in vascular walls cause the occurrence of bleeding, bruising, and ecchymosis.Very often in the elbows and knees come repeated subcutaneous hemorrhage, which are characterized by brown pigmentation.
For normal coagulation status characterized by hemorrhagic changes.This fact, the disease should always be considered when conducting operations.
joints in Ehlers-Danlos syndrome characterized by hypermobility.It is possible to determine the scale of joint mobility (Beygtona).It is characterized by five main features: four doubles and one twin did not.Also, aching joints are characterized by frequent subluxations and dislocations, including congenital dislocation of the hip, and in addition, arthralgia and chronic nature.
Patients with the syndrome of Ehlers-Danlos syndrome suffer from kyphosis, scoliosis and their associations.If this disease is changing in other somatic organs and systems.To join the pathological process violations on the part of the organs of vision: retinal detachment, keratoconus, myopia and sclera with a blue tint.From the side of cardiovascular system revealed mitral valve prolapse and aortic dilatation.
also a characteristic symptom of Ehlers-Danlos syndrome is a muscle hypotonia, which is shown delayed motor development, and fatigue.Thus, this symptom leads to a typical hernia, prolapse somatic organs.Among obstetric problems isolated premature rupture of membranes, which lead to premature birth and the nature of postpartum hemorrhage.
to the classical type of the disease, which includes first and second types of Ehlers-Danlos syndrome, characterized by joint hypermobility, skin atrophy giperrastyazhimost scars.When this type of diagnosis reveal more additional symptoms.In this case, the skin has a velvety and smooth surface, formed subcutaneous fibroids, there are complications due to hypermobility of the joints as sprains, dislocations, subluxations, and flat feet.Also present hypotension muscles occurs insignificance ecchymosis exhibiting increased extensibility and tissue fragility of cervical insufficiency, bleeding divergence seams and hernias.For the diagnosis of an important aspect is the presence of similar symptoms closest relatives.
Violations of the skin can vary from mild to severe severity.But the patella, shoulder and temporomandibular joints are most prone to repeated subluxations.Very often, patients with classical type complain of fatigue.
for hypermobility type of Ehlers-Danlos syndrome is also characterized by an increased elongation of the skin with a smooth, velvety surface;generalization of ultra-mobile joints.Additional diagnostic criteria include joint sprains repeated nature, constant pain in the limbs and joints, as well as the identification of familial predisposition.In this type of joint hypermobility dominates with minor skin manifestations.The extensibility of the skin characterized by variable and not atrophic scars.However, muscle and joint pain starts very early with debilitating and chronic.
for vascular type of Ehlers-Danlos syndrome, the basis of diagnostic criteria are: transparent and thin skin, extensive bleeding, breaks the walls of the uterus, intestines and arteries.With additional diagnosis reveals atrophy of the edge of the gums, varicose veins with early onset, clubfoot, hypermobility of the small joints, pneumothorax;on the part of family history - a positive result, and the sudden death of close relatives who did not live up to fifty years old, as a result of the gap, sometimes bowel or arteries.
With existing two major symptoms, it is safe to diagnose vascular type of Ehlers-Danlos syndrome and assign laboratory study.Patients with this type of disease the skin taut, narrow nose and thin lips, cheeks, sunken with severe exophthalmos as a result of reduced fat layer under the skin.This phenotype was observed only among adults, but in children it is less pronounced.
joint hypermobility is noted only on the fingers.Spontaneous arterial rupture with a maximum frequency occur in the third or fourth decade of life, however, they may occur earlier.More often than not, the process involved a medium-sized arteries.During pregnancy and childbirth complications can appear in the form of rupture of the uterus, the perineum, vagina, and uterine bleeding.Such gaps lead to frequent fatal.
for Ehlers-Danlos syndrome type kifoskolioticheskogo characterized by articular hypermobility varied with severe hypotonia at birth, progressive kyphosis, scoliosis, fragility of the sclera.Additionally, joining the arteries ruptures, tissue fragility, bleeding, atrophic scars etiology microcornea and the presence of a positive family history.
important point is believed that the presence of three major symptoms can suggest the diagnosis and conduct laboratory diagnosis.And muscle hypotonia can be very pronounced, causing a delay in the patient's motor skills.And in severe scoliosis such patients after twenty or thirty years are not able to move independently.At the slightest injury can rupture of the eyeball due to the fragility of ocular tissues.Based on recent data, there are severe complications of the eye is now much smaller than before.
For artrohalazii main symptoms include severe form of generalized joint hypermobility, which is marked with the repeated dislocations and subluxations, as well as the etiology of congenital dislocation of the hip.Additional criteria include: kyphoscoliosis, atrophic scars, strong stretching of the skin, bleeding, repeated often enough, with moderate osteopenia, hypotension, muscle and tissue fragility.In these patients have short stature in patients with severe scoliosis and kyphosis and hip dislocation.
to the latter type of Ehlers-Danlos syndrome include dermatosparaksis with severe fragility and excessive flaking skin.The consistency it resembles a soft, doughy mass, which appear light bleeding.For this type of disease is characterized by large size and the hernia, umbilical, and inguinal and fetal membrane rupture prematurely.Well it expressed the fragility of the skin, but the wounds heal without the formation of atrophic scars.
Ehlers-Danlos syndrome treatment
At present, there are no specific treatments for Ehlers-Danlos syndrome.Basically, it is recommended to limit themselves in physical activities, to comply with gentle treatment of the day, and apply symptomatic therapy.
syndrome, Ehlers-Danlos syndrome during the surgery removed pseudotumor, carried out surgical correction of thoracic kyphosis as a result, prescribe pathology of the eye, and cardiovascular system.If surgical intervention is required to take into account the possibility of many bleeding complications after breaking the fragile walls of blood vessels and the inability to take in this defect, there may be differences in the intestine anastomosis and poor wound healing with the re-opening of postoperative sutures.
Patients with Ehlers-Danlos syndrome is recommended protein diet, which contain jellies, bone broths and flood.Appointed physiotherapy procedures, physiotherapy and massage.Drug therapy includes the administration of amino acids (Nutraminos, carnitine), vitamins B and E, C, D, mineral supplements (magnerot and magnesium / calcium-D3-Nycomed), topical, and oral administration of chondroitin sulfate, trophic agents (lecithin, ATP,Inosine and Coenzyme Q10), Glucosamine.These drugs are taken during one or two months, twice or three times a year.
Prediction Ehlers-Danlos syndrome is mainly dependent on the type of anomaly.The lethal outcome occurs when somatic organs and pathologies characteristic of the fourth type of pathological process at which breaks large vessels, bowel perforation, pneumothorax, which occurs spontaneously and aneurysm of the vessel wall.
For the second and third type of Ehlers-Danlos syndrome, the prognosis is usually favorable, but as far as the pathology may influence the duration of life is not clear.
People diagnosed with Ehlers-Danlos syndrome, face life with many social problems.They are constantly in fear of the great and painful tears, afraid to remain unemployed because of the deteriorating physical condition, experience in general, constant emotional difficulties.They understand that the Ehlers-Danlos syndrome - a life-long disability.