Medicine knows many syndromes that can be diagnosed at an early stage thanks to the latest technologies. Many syndromes are genetically determined. Among them is Marfan syndrome, which is caused by a genetic mutation at conception.
This disease cannot be cured, but ways have been found to maintain and compensate for the condition. A few decades ago, people with Marfan syndrome lived for about 40 years. Now, thanks to a detailed study of the syndrome, the life expectancy of such people is equal to the average life expectancy of ordinary people.
Marfan syndrome. Causes of connective tissue disease
Marfan syndrome appears after a gene mutation in the 15th chromosome of the fibrillin protein, which is the main component of connective tissue. Without this protein, connective tissue loses its elasticity and strength.
Marfan syndrome is inherited in an autosomal dominant manner. If both parents have Marfan syndrome, the child will receive a damaged gene in 50% of cases.
Cases are not ruled out when in healthy parents, when a child is conceived, a spontaneous mutation occurs in the sperm or egg. No one knows the reasons for this, but such children will pass this gene on to their heirs with a probability of 50%.
Marfan syndrome. Manifestations of connective tissue defects
Patients with Marfan's syndrome have many problems with organs that have connective tissue – eyes, heart – vascular system and bones.
In appearance, people with this syndrome are tall and very thin. A characteristic feature is that when spreading the hands, the distance between the fingers is greater than the height of a person.
From the side, cordially – vascular system manifest the most serious complications. This condition of the connective tissue in the aortic wall can cause aortic rupture, which can be fatal.
In the valves of the heart, connective tissue is also damaged and changes are found that cause blood to flow back into the heart. This is manifested by increased heart rate, shortness of breath, arrhythmia and heart murmurs. This heart valve work increases the size of the heart and makes it much more difficult to work.
On the side of the eyes, people with Marfan syndrome have a problem with the lens, which is called "luxation of the lens." Normally, the lens is held in the eye by connective tissue. With Marfan's syndrome, the connective tissue is not able to perform its function and the lens is shifted in different directions. Myopia, retinal detachment, glaucoma and cataracts are also possible.
On the part of the musculoskeletal system, scoliosis develops, the chest is deformed. The joints are very mobile, soft. Patients have flat feet.
What to do if Marfan syndrome is detected?
When Marfan's syndrome is detected, consultation of narrow specialists is needed: an ophthalmologist, an orthopedist – traumatologist, cardiologist and therapist. Under the supervision of these specialists, a person with Marfan syndrome should be constantly.
In order to avoid dangerous consequences from the side of the heart – vascular system, the patient is recommended to take beta – blockers that reduce cardiac output.
When girls are diagnosed with Marfan's syndrome, it is recommended to take hormones to accelerate puberty in order to stop growth.
If the patient wants to have children, it is worth consulting a geneticist.
Marfan's syndrome, although rare, but you need to know about its existence and methods of treatment.
Children with Marfan syndrome are prohibited from participating in active sports other than cycling and swimming. Regular physical examination and supportive care are important.
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