Marfan syndrome
Marfan syndrome is a rather rare disease in which systemic underdevelopment of connective tissue occurs in the embryonic and postnatal period. This process is caused by a structural defect of collagen, which causes damage to the cardiovascular system, eyes and musculoskeletal system.
Causes of Marfan syndrome
Marfan syndrome is a congenital anomaly that is inherited in an autosomal dominant type. The cause of this disease is a mutation of the gene responsible for the synthesis of fibrillin, thanks to which connective tissue has contractility and mobility. With a deficiency or abnormality of fibrillin, there is a violation of the formation of fibrous structures, loss of elasticity and strength of connective tissue, which loses the ability to withstand physiological stress. The ligamentous apparatus and vascular walls undergo the greatest change. Thanks to modern research, it has been established that this disease in most cases has a family type of inheritance, and only in 25% of cases, its cause is a primary mutation.
Types of Marfan syndrome
Marfan syndrome is divided into several forms:
Erased, has weakly expressed changes in one or two systems.
Pronounced. With a weakly expressed form, three systems are affected, with a pronounced form in more than three systems.
Symptoms of Marfan syndrome
Marfan syndrome has a pronounced clinical picture, in which there is a combined lesion of the nervous and cardiovascular systems, eyes and skeleton.
Patients with this disease have high growth with a rather short trunk and disproportionately developed and long limbs, with elongated fingers. The patients have asthenic constitution with muscular hypotension and a small amount of subcutaneous tissue. Patients are distinguished by a narrow and long facial skeleton.
Marfan syndrome is characterized by subluxations and dislocations of the cervical spine, deformity of the spine and chest, impaired joint functionality.
In this disease, as a rule, cardiovascular pathology dominates, which is the determining factor in its course.
Diagnosis of Marfan syndrome
Diagnosis of the disease is carried out on the basis of a family history, the presence of clinical signs, X-ray and ophthalmological examination, EchoCG and ECG.
Treatment of Marfan syndrome
Marfan syndrome should be subjected to complex treatment, the development of which involves specialists such as a therapist, geneticist, orthopedist, cardiac surgeon, cardiologist, ophthalmologist. The main direction of treatment is to prevent the progression of this disease and prevent possible complications. The main attention should be paid to the cardiovascular system.
The drug treatment includes the appointment of drugs from the group of calcium inhibitors or antagonists. If aortic dissection or insufficiency of the heart valves is diagnosed, surgical treatment is prescribed. Pregnant women with a history of this disease are prescribed a caesarean section.
After surgery, anticoagulants and antibiotics are prescribed to prevent thrombosis.
Vision correction in this disease occurs with the help of contact lenses and glasses. If indicated, surgical treatment of glaucoma or cataract is performed. In the presence of significant skeletal disorders, joint replacement or spinal stabilization is performed.
As an additional therapy, patients are prescribed vitamins and collagen normalizing therapy.
