Inherited disorders of connective tissue: main dysplastic syndrome and phenotype, clinical management of patients

According to modern concepts, large content of connective tissue in the body determines the consistency and polyorgano manifestations of inherited connective tissue disorders, with the most pronounced lesions occur most collagenation organs and tissues. The condition of the connective tissue depends on the activity of enzymes collagenases, elastase, hyaluronidase that is supported by adequate doses of magnesium ions. When magnesium deficiency protein synthesis of connective tissue slows down, as collagen fibers are destroyed faster than it is synthesized. The basis of development of hereditary disorders of connective tissue are mutations of genes responsible for the synthesis or degradation of components of connective tissue. Mutations of these genes lead to the development of more than 250 HDCT. These include Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, joint hypermobility syndrome, which are rare, they are well studied and developed international criteria for the diagnosis and management of patients. In practice, the therapist often dysplastic syndromes, including valvular, arrhythmic a syndrome vegetative dysfunction syndrome, varicose veins. The article describes diagnostic criteria, examples of formulations diagnosis, risk factors complications and sudden death of the dysplastic syndromes. The tactics of the treatment on the basis of modern pharmacokinetics, much attention is paid to non-medicamental methods of correction of this pathology. Diagnostic algorithms and treatment will help doctors of a therapeutic profile in the management of patients.