Marfan's 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, and vision deteriorates. This disease is equally common in both 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 disease
The main cause of Marfan's syndrome is congenital changes in the FBN1 gene. It controls the production of the fibrillin protein in the body. This substance makes the connective tissue elastic and strong.
In the body of patients, this protein is produced in very small quantities or not at all. Its deficiency negatively affects the condition of the connective tissue. She's too strongstretches, becomes weak and does not cope well with even small physical exertion. Because of this, in people with Marfan syndrome, the skeleton does not develop correctly, 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. They progress throughout life. Without treatment, this disease can lead to early death of the patient.
How is pathology inherited?
Marfan syndrome is inherited 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, pathology is transmitted from sick parents. But it also happens that the father and mother are he althy, but the child suffers from Marfan's syndrome. This is noted in 15% of cases. The reasons for this random gene mutation are unknown. However, experts have found that the risk of having a child with such a pathology increases if the father's age exceeds 35-40 years. The age of the mother in this case does not affect the gene mutation.
Signs of damage to the musculoskeletal system
Changes in the skeleton are one of the leading symptoms of Marfan's syndrome. An experienced doctor can assume the presence of this pathology already during the examination by the appearance of the patient.
People with this condition are usually tall. They have thin bonesincreased flexibility in joints and tendons. Patients with large stature are usually underweight and appear tall and thin. Bones lengthen 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, having a high stature and a large arm span, try to play sports. However, with such a pathology, physical activity is categorically contraindicated. Connective tissue due to lack of fibrillin becomes very weak and may not withstand stress. With high growth, patients do not differ in great physical strength, on the contrary, their bones and muscles do not cope well with the load.
Another sign of pathology is disproportionately long fingers. They have increased flexibility. Such a symptom is called "spider fingers", or arachnodactyly, this is one of the characteristic external manifestations of Marfan's syndrome. A photo of the patient's hand can be seen below.
In those suffering from this syndrome, the face has a long and narrow shape. There are changes in the sky, it is high and curved. Because of this, a sick child may not grow teeth properly. In adults, the voice changes, hoarseness appears.
Adipose tissue in patients is underdeveloped, because of this, they have a low body weight and look very thin with high growth. Muscles are weak, poorly withstand the load.
Patients have flat feet, curvature of the spine anddeformities of the bones of the body. Depressed or protruding chest is a common manifestation of Marfan's syndrome. In the photo you can see the deformation of the patient's bones.
Impaired vision
Due to the high 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 viewed from an ophthalmologist, a strong displacement of the lens is determined. This negatively affects vision. Patients with Marfan syndrome have the following ophthalmic abnormalities:
- myopia;
- glaucoma;
- cataract.
These diseases occur in childhood. Often a child has to wear glasses from an early age. A dangerous complication of lens displacement can be retinal detachment, which leads to severe visual impairment.
Cardiac symptoms
Affection of the heart is the most dangerous sign of Marfan's syndrome. Cardiac pathologies often cause death due to aortic rupture. The patient has the following painful changes:
- dilation and aortic aneurysm;
- disruption of heart valves;
- heart enlargement;
- violation of myocardial conduction.
Because of these deviations, there are chest pains of the type of angina pectoris, shortness of breath, arrhythmia, tachycardia, a feeling of constant fatigue. Sometimes children who inherit this syndrome are born with heart defects, which leads to death atfirst year of life.
Nervous system damage
In Marfan's syndrome, central nervous system symptoms are associated with swelling of the sac (sheath) that surrounds the spinal cord. This formation also consists of connective tissue, which is pathologically altered. Neurologists call this disorder dural ectasia. At first, the person experiences only slight discomfort. But over time, the pathology progresses, and the pressure of the membrane on the lower sections of the spinal cord increases. The patient is concerned about frequent pain in the abdomen, as well as weakness and numbness of the legs.
Changes in the lungs
Pathological changes in the lungs are not always noted. However, the elasticity of the connective tissue is also impaired in the respiratory organs. As a result, the risk of pneumothorax, respiratory failure and emphysema increases. It is not uncommon for patients to spontaneously stop breathing (apnea) at night.
Other manifestations
The patient develops stretch marks on the skin, which have nothing to do with changes in body weight. This is only cosmetic and is not usually a problem.
However, patients are very prone to groin and abdominal hernias, 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 genitourinary organs prolapse. Patients are often injured: sprains and sprains of the tendons.
General he alth
With this genetic pathology, patients feel constantly tired. They get tired even from slight physical exertion. Their muscles are poorly developed, after exercise, patients feel pain in the muscles. Such signs are associated with damage to the connective tissue.
With psycho-emotional stress, migraine-type headaches, asthenia and lowering blood pressure can occur.
Does mental development suffer
Sick children do not have mental retardation. Patients with Marfan syndrome have normal intelligence. In some cases, their IQ level is even above average. However, patients sometimes show signs of increased nervousness: excessive emotionality, tearfulness, irritability.
Diagnosis
A doctor can guess the disease by the appearance of the patient. However, high growth, thin complexion and poor eyesight do not always indicate this pathology. These signs are observed in other genetic disorders, and in he althy people. The specialist necessarily asks the patient about the cases of this hereditary anomaly in the family, in particular, among the parents.
To diagnose Marfan's syndrome, it is necessary to undergo an examination by an orthopedist, cardiologist, ophthalmologist and geneticist, as well as an ECG. This will help assess the condition of the bones, eye apparatus and heart. Diagnosis is made if a person has at least one of the following symptoms:
- breast bone deformity;
- displacement of the lens;
- curvature of the spine;
- pathological changes in the aorta;
- lengthening and pathological flexibility of fingers.
And also a person must have at least two of the following signs:
- disruption of heart valves;
- pneumothorax;
- flat feet;
- high growth;
- excessive mobility of tendons and joints;
- myopia;
- stretch marks on the body.
Thus, the diagnosis is based on 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 a search is made for mutations in the FBN1 gene. 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 such methods that could fix the "breakage" of the gene. Therefore, the treatment of Marfan syndrome can only be symptomatic. The following medications are prescribed to help correct pathological changes in the body:
- Beta-blockers ("Atenolol", "Obzidan" and others). They are used when the aorta expands up to 4 cm to prevent cardiac complications. Other heart drugs (ACE inhibitors, calcium antagonists) are also used.
- Drug "Losartan". This medicine has been used in the treatment of Marfan's disease relatively recently. It belongs to angiotensin receptor blockers. The drug slows down the expansionaorta. According to medical research, 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.
- Drugs 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 must be under the supervision of several doctors (genetics, cardiologist, orthopedist, ophthalmologist), regularly undergo examinations and necessary examinations. Vision correction for myopia is carried out by fitting glasses or contact lenses.
Patients with Marfan's disease are shown physiotherapy. It is useful to conduct magnetotherapy on the joints, electrosleep, exercise therapy exercises. Once a year, treatment in a sanatorium is recommended for patients with pathologies of the musculoskeletal system.
Surgeries
With this syndrome, one often has to resort to cardiac surgery. This can significantly increase the survival rate of patients. Prior to the use of heart surgery, the life expectancy of patients with this syndrome was short. People lived only to middle age (40-50 years). Currently, cardiac surgery has increased the lives of patients by about 20 years.
Often have to do surgery on the aorta. They areare shown when the expansion of this vessel is more than 5 cm. Mitral valve replacement is also carried out.
Surgeries on the heart are 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 when the chest is deformed. It allows you to get rid of the 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. This eye surgery is performed for early cataracts and glaucoma.
- Spinal stabilization with metal plates. The operation is performed in severe cases of scoliosis.
- Arthroplasty. Patients often present with bone pathologies. For this reason, it is sometimes necessary to replace the affected joint with a prosthesis.
- Removal of adenoids and tonsils. These interventions need to be done in childhood. A child suffering from this syndrome is very prone to colds.
In addition, pregnant women with Marfan's disease are shown a caesarean section. Muscle weakness and heart problems make it very difficult for them to give birth on their own.
Forecast
With this hereditary disease, complex 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 allows significantlyincrease the life of patients. With regular treatment and medical supervision, patients can live into old age. In addition, after cardiac surgery, the patient's ability to work increases.
Young women suffering from this syndrome often wonder if they can get pregnant. The chance to give birth to a he althy baby exists, provided that the father of the child is he althy. However, it must be remembered that the risk of transmission of the disease in this case is 50%. In addition, bearing a fetus creates a huge burden on the cardiovascular system, which already suffers from this disease. Therefore, with such a genetic pathology, pregnancy is not recommended.
Prevention
To date, specific prevention of Marfan's 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 genetic consultation is necessary.
If a person already has signs of pathology, then it is necessary to avoid physical exertion. Patients should not play sports and do hard work. Such patients should undergo regular medical examinations. Children with this disease are exempt from physical education, but they are shown to perform exercise therapy exercises.
