What is Marfan syndrome and how to live with it

What is Marfan Syndrome

Marfan syndromeMarfan syndrome / Mayo Clinic Is a hereditary disease in which the structure of the connective tissue changes, which causes damage to the heart and blood vessels, eyes, and the musculoskeletal system.

The disease is rareMarfan Syndrome (MFS) / Medscape , occurs in two or three people out of 10 thousand. She is inheritedMarfan syndrome / U. S. National Library of Medicine according to the autosomal dominant principle. This means that if at least one of the parents has defective gene, then the child will get sick with a 50% probability. But in about 25% of people with Marfan syndrome, the mutation occurs spontaneously, and is not inherited.

Thanks to medical assistance, the durationMarfan Syndrome (MFS) / Medscape the lives of people with Marfan syndrome increased and became almost the same as that of healthy people. But if the genetic pathology is not diagnosed on time, then a person can die suddenly due to cardiovascular complications.

How to recognize Marfan syndrome

People with this condition stand out externally.Marfan syndrome / Mayo Clinic. Usually they are tall and slender in shape, disproportionately long arms, legs and fingers, elongated face and very crowded teeth that may overlap. Often the sternum protrudes too much or, conversely, is pressed inward, and the spine is strongly curved.

In addition, there are other symptoms.Marfan Syndrome / National Institute of Arthritis and Musculoskeletal and Skin Diseases:

• Headaches.
• Flat feet.
• Violation of the rhythm of the heart. It can beat more often or less often than normal, and sometimes it misses blows.
• High palate.
• Loose, very mobile joints.
• Lower back pain, numbness in the legs.
• Shortness of breath due to changes in the lungs and heart.
• Stretch marks on the skin.
• Poor eyesight.

Why is Marfan syndrome dangerous?

As we said above, this disease causes a violation of the structure of the connective tissue, which is in many organs. Because of this, life-threatening complications often develop in Marfan syndrome.Marfan syndrome / Mayo Clinic.

Cardiovascular problems

The walls of the aorta and heart valves become loose and therefore easily deformed. Because of this, the following may develop:

• Aortic aneurysm. This is the name for the bulging of the wall of the largest vessel. In Marfan syndrome, this usually occurs near the heart. In some cases, the aneurysm bursts and the person dies from severe internal bleeding.
• Dissection of the aortic wall. If a small crack appears in the inner layer of the tissue of the vessel, blood can easily seep into it. This is accompanied by severe chest pain. If the damaged part of the aorta breaks down and bursts, the person also dies.
• Valvular malformations. They are made up of connective tissue and in Marfan syndrome they can stretch and not collapse completely. Therefore, the heart does not pump blood normally, the load on it increases. This leads to the development of heart failure.

In pregnant women, the load on the cardiovascular system is greater. Therefore, with Marfan syndrome, there is a high likelihood of a dangerous stratification and rupture of the vessel, even if everything was normal before conception.

Vision problems

It can beMarfan syndrome / Mayo Clinic:

• Myopia, or myopia, severe. This is the most commonH. Dietz. Marfan syndrome / GeneReviews problem with Marfan syndrome.
• Lens dislocation. This happens if the ligaments holding the eye lens are weakened. This occurs in more than half of people with Marfan syndrome.
• Retinal pathology. It can rupture or peel off due to changes in the structure of the connective tissue of the eye.
• Glaucoma or cataract. Usually, these diseases develop in old age, and in people with Marfan syndrome, they can manifest themselves already in their youth.

Musculoskeletal problems

Violation of the structure of the connective tissue leads to a change in the structure of the skeleton. Therefore, 50–70% of people develop scoliosis already in childhood.Marfan Syndrome (MFS) Treatment & Management / Medscape , which interferes with the normal development of the ribs. As a result, the sternum may be pressed into the chest or protrude too much. All these changes in the spine lead to back pain. Also often deformedMarfan Syndrome (MFS) Clinical Presentation / Medscape arch of the foot and flat feet develops.

What to do if there are signs of Marfan syndrome

Usually, the first symptoms of pathology appear in childhood. Therefore, you need to contact your pediatrician. Special laboratoryMarfan Syndrome (MFS) Workup / Medscape there is no test that detects Marfan syndrome. But sometimes molecular genetic testing is prescribed if several family members have signs of the disease. In other cases, diagnostic methods are used that make it possible to determine the pathology of a specific organ or system. It can beMarfan Syndrome (MFS) Workup / Medscape:

• ECG.
• Ultrasound of the heart, eyeball.
• MRI of the musculoskeletal system, heart.
• Radiography of individual parts of the skeleton.
• Examination of the fundus.
• KeratometryMarfan Syndrome (MFS) Workup / Medscape - examination of the degree of curvature of the cornea.

What treatment is prescribed for Marfan syndrome

The disease cannot be cured. But there are ways to improve the quality of life and reduce the risks of complications.

Avoid strenuous physical activity

They are capableMarfan syndrome / Mayo Clinic increase blood pressure, which means they increase the likelihood of rupture of the aorta. But doctors are allowed to engage in less intense sports, such as walking, tennis, golf and bowling.

Take medication

What drugs the doctor prescribes depends on the condition of the heart and blood vessels, as well as other symptoms. For example, if a person has high blood pressure, they selectMarfan Syndrome (MFS) Treatment & Management / Medscape medicines for hypertensionto avoid dissection and rupture of the aorta.

Restore vision

Many people with Marfan syndrome are prescribedMarfan syndrome / Mayo Clinic glasses or contact lenses. If there is a retinal detachment, an operation is performed. And when the lens becomes clouded, it is replaced with an artificial one.

Support the spine

If a person with Marfan syndrome has a small scoliosis, doctors can pick upMarfan Syndrome (MFS) Treatment & Management / Medscape thoracic-lumbar-sacral orthosis. This is a special corrective device that helps support the spine. But it doesn't always work.

Make an operation

With severe scoliosis or curvature of the sternum, they may resort to surgery to correct the abnormalities and fix the chest. The help in the form of surgery will also depend on the complications that develop. If a person's heart valves do not work well, they are replaced.Marfan Syndrome (MFS) Treatment & Management / Medscape artificial. In case of defects in the structure of the aorta, it is strengthened with synthetic materials.