Marfan syndrome is a genetic disease in which pathological changes affect the connective tissue. Because of this, the patient develops disorders in the structure of the skeleton and the work of the heart, as well as impaired vision. Such a disease is equally common in men and women. Pathology is noted in 1 case per 10,000 newborns. In the future, painful changes progress and without treatment significantly reduce the patient's life expectancy.
Causes of the disease
The main cause of Marfan syndrome is congenital changes in the FBN1 gene. It controls the production of fibrillin protein in the body. This substance makes the connective tissue elastic and durable.
In the body of patients, this protein is produced in very small quantities or is not produced at all. Its deficiency negatively affects the condition of the connective tissue. It stretches too much, becomes weak and does not cope well even with small physical exertion. Because of this, people with Marfan syndrome do not properly develop the skeleton, there are serious violations in the functioning of the heart valves. Due to the mobility of the lens of the eye, visual impairment is observed. Defects in the connective tissue occur during the prenatal period. Throughout life, they progress. Without therapy, this disease can lead to early death of the patient.
How is pathology inherited?
Inheritance of Marfan syndrome occurs in an autosomal dominant manner. If one parent is sick, then he can pass the pathology to the child in 50% of cases. If both father and mother suffer from this syndrome, then the probability of having a sick baby increases to 75-100%.
Most often, the pathology is transmitted from sick parents. But it also happens that the father and mother are healthy, but the child suffers from Marfan syndrome. This is noted in 15% of cases. The reasons for this random gene mutation are unknown. However, experts found that the risk of having a baby with such a pathology increases if the age of the father exceeds 35-40 years. The age of the mother in this case does not affect the gene mutation.
Symptoms of a musculoskeletal system lesion
Changes in the skeleton are one of the leading symptoms of Marfan syndrome. An experienced doctor may suggest the presence of this pathology during the examination by the appearance of the patient.
People with this disease usually have high stature. They have thin bones with increased flexibility in joints and tendons. With large stature, patients are usually low in weight and look tall and thin. The bones are lengthened due to excessive stretching of the connective tissue in Marfan syndrome. A photo of the patient can be seen below.
The limbs of patients are disproportionately long and thin. Some patients, with high stature and large arms, try to play sports. However, with such a pathology, physical activity is strictly contraindicated. Due to the lack of fibrillin, connective tissue becomes very weak and can not withstand stress. With high growth, patients do not differ in great physical strength, on the contrary, their bones and muscles cope poorly with the load.
Another sign of pathology is disproportionately long fingers. They have increased flexibility. This symptom is called "spider fingers", or arachnodactyly, this is one of the characteristic external manifestations of Marfan syndrome. A photo of the patient’s brush can be seen below.
In patients with this syndrome, the face has a long and narrow shape. There are changes in the sky, it is tall and curved. Because of this, a sick child may not properly grow teeth. In adults, the voice changes, hoarseness appears.
Adipose tissue in patients is poorly developed, because of this they have a reduced body weight and look very thin with high growth. The muscles are weak, poorly withstand the load.
Patients have flat feet, curvature of the spine and deformation of the bones of the trunk. A depressed or protruding chest is a common manifestation of Marfan syndrome. In the photo you can see the deformation of the bones in the patient.
Visual impairment
Due to the great extensibility of the connective tissue, the mobility of the lens of the eye increases. Often there is a dislocation or subluxation of this organ. When examined by an ophthalmologist, a strong displacement of the lens is determined. This negatively affects vision. In patients with Marfan syndrome, the following ophthalmic disorders are detected:
- myopia;
- glaucoma;
- cataract.
These diseases occur in childhood. Often a child from an early age has to wear glasses. A dangerous complication of lens displacement can be retinal detachment, which leads to severe visual impairment.
Heart symptoms
Heart damage is the most dangerous sign of Marfan syndrome. Cardiological pathologies often cause death due to aortic rupture. The patient has the following painful changes:
- expansion and aneurysm of the aorta;
- disruption of the heart valves;
- heart enlargement;
- myocardial conduction disturbance.
Because of these deviations, chest pains such as angina pectoris, shortness of breath, arrhythmia, tachycardia, and a feeling of constant fatigue are observed. Sometimes children who inherit this syndrome are born with heart defects, which leads to death in the first year of life.
Damage to the nervous system
In Marfan syndrome, symptoms from the central nervous system are associated with swelling of the sac (membrane) that surrounds the spinal cord. This formation also consists of connective tissue, which is pathologically altered. Neuropathologists call this violation dural ectasia. At first, a person experiences only a little discomfort. But over time, the pathology progresses, and the pressure of the membrane on the lower parts of the spinal cord increases. The patient is concerned about frequent abdominal pain, as well as weakness and numbness of the legs.
Lung changes
Pathological changes in the lungs are not always noted. However, the elasticity of the connective tissue is impaired in the respiratory organs. As a result, the risk of pneumothorax, respiratory failure, and emphysema increases. Patients often experience spontaneous respiratory arrest (apnea) at night.
Other manifestations
The patient appears stretch marks on the skin, which are in no way associated with a change in body weight. This is just a cosmetic flaw and usually does not cause any concern.
However, patients are very prone to the formation of hernias in the inguinal and abdominal region, which often recur despite treatment.
This syndrome is often accompanied by endocrine disorders, patients have an increased risk of diabetes and acromegaly. Due to the stretching of the connective tissue, the urinary organs are omitted. Patients often get injured: dislocations and sprains.
Overall well-being
With this genetic pathology, patients feel constantly tired. They get tired even from insignificant physical stress. Their muscles are poorly developed, after exercise, patients feel pain in the muscles. Such signs are associated with damage to the connective tissue.
With psychoemotional stress, headaches such as migraine, asthenia and a decrease in blood pressure can occur.
Does mental development suffer
In sick children, there is no mental retardation. Patients with Marfan syndrome have normal intelligence. In some cases, their IQ is even above average. However, patients sometimes show signs of increased nervousness: excessive emotionality, tearfulness, irritability.
Diagnostics
The doctor may suggest the disease by the appearance of the patient. However, high growth, lean complexion and poor eyesight do not always talk about this pathology. These signs are observed with other genetic disorders, and in healthy people. The specialist must ask the patient about cases of this hereditary abnormality in the family, in particular, with parents.
To diagnose Marfan syndrome, it is necessary to undergo an examination with an orthopedist, cardiologist, ophthalmologist and genetics, as well as an ECG. This will help assess the condition of the bones, ocular apparatus and heart. A diagnosis is made if a person has at least one of the following symptoms:
- deformation of the sternum;
- lens displacement;
- rachiocampsis;
- pathological changes in the aorta;
- lengthening and pathological flexibility of the fingers.
And also in a person, at least two of the following symptoms should be observed:
- disruption of the heart valves;
- pneumothorax;
- flat feet;
- high growth;
- excessive mobility of tendons and joints;
- myopia;
- stretch marks on the body.
Thus, the diagnosis is made by the totality of the manifestations of the disease. In addition, there is a special analysis for Marfan syndrome. Blood is taken from the patient and mutations in the FBN1 gene are searched. However, this is a rather expensive study, it is carried out in the centers of molecular genetics.
Conservative treatment
In modern medicine, there are no methods that could fix the "breakdown" of the gene. Therefore, the treatment of Marfan syndrome can only be symptomatic. The following medications are prescribed that help to correct pathological changes in the body:
- Beta-blockers ("Atenolol", "Obzidan" and others). They are used to expand the aorta to 4 cm to prevent cardiac complications. Other heart medications are also used (ACE inhibitors, calcium antagonists).
- The drug "Losartan." This medicine has been used in the treatment of Marfan's disease relatively recently. It refers to angiotensin receptor blockers. The drug slows down aortic expansion. According to medical studies, this medicine is more effective than beta-blockers.
- Antibiotics and coagulants. They are usually prescribed after cardiac surgery, for the prevention of blood clots and endocarditis.
- Preparations for the normalization of collagen. For this purpose, antioxidants, vitamin complexes and dietary supplements are prescribed: “Collagen Ultra”, “Elkar”, “Limontar”, “Riboxin”, products with coenzyme, vitamins E and group B.
- Nootropics. They are prescribed for weakness and asthenia. Most often used "Piracetam".
The patient should be under the supervision of several doctors (genetics, cardiologist, orthopedist, ophthalmologist), undergo regular examinations and necessary examinations. Vision correction for myopia is carried out using the selection of glasses or contact lenses.
Physiotherapeutic procedures are indicated for patients with Marfan's disease. It is useful to carry out magnetotherapy on joints, electric sleep, exercise therapy exercises. Once a year, treatment in a sanatorium is recommended for patients with pathologies of the musculoskeletal system.
Surgery
With this syndrome, you often have to resort to cardiac surgery. This allows you to significantly increase the survival of patients. Prior to heart surgery, the life expectancy of patients with this syndrome was short. People survived only to middle age (40-50 years). Currently, cardiac surgery has increased the lives of patients by approximately 20 years.
Often you have to do operations on the aorta. They are shown with the expansion of this vessel more than 5 cm. They also perform mitral valve prosthetics.
Heart surgery is most often done with this syndrome, since this organ suffers greatly from connective tissue defects. However, other surgical interventions are also performed, such as:
- Thoracoplasty. This operation is done with chest deformity. It allows you to get rid of a defect in the structure of the skeleton. A partial resection of several ribs is performed, after which the sternum looks more even.
- Extraction of the lens. Such an eye operation is performed with early cataract and glaucoma.
- Stabilization of the spine using metal plates. The operation is performed in severe cases of scoliosis.
- Endoprosthetics. Patients often have bone pathologies. For this reason, sometimes it is necessary to replace the affected joint with a prosthesis.
- Removal of adenoids and glands. These interventions must be carried out in childhood. A child suffering from this syndrome is very susceptible to colds.
In addition, cesarean section surgery is indicated for pregnant women with Marfan disease. Due to muscle weakness and heart problems, it is very difficult for them to give birth on their own.
Forecast
With this hereditary disease, a comprehensive treatment of all organs that are affected by the disease is necessary. Without therapy, the life expectancy of patients is no more than 40-45 years. Death occurs from severe disorders of the heart and blood vessels.
Surgical correction of pathological changes can significantly increase the life of patients. With regular treatment and medical supervision, patients can survive to the elderly. In addition, after cardiac surgery, the patient's ability to work increases.
Young women with this syndrome are often interested in whether they can become pregnant. A chance to give birth to a healthy baby exists provided that the father of the child is healthy. However, it must be remembered that the risk of transmission of the disease in this case is 50%. In addition, the bearing of the fetus creates a huge burden on the cardiovascular system, which already suffers from this ailment. Therefore, with such a genetic pathology, it is not recommended to become pregnant.
Prevention
To date, specific prevention of Marfan syndrome has not been developed. The disease is genetic and cannot be prevented. You can only undergo prenatal diagnosis during pregnancy. If one of the future parents suffers from this disease, then a geneticist consultation is necessary.
If a person already has signs of pathology, then physical activity must be avoided. Patients should not play sports and do hard work. Such patients should undergo regular medical examinations. Children with this ailment are exempted from physical education, but they are shown the performance of exercise therapy exercises.