What vision pathologies accompany Marfan syndrome?

Arachnodactyly (spider finger syndrome) is an anatomical defect in which the phalanges of the limbs become elongated and thin. With this disorder, a change in the configuration of cartilage and joints occurs.

Arachnodactyly affects both men and women equally. The disease exposes the patient to damage to parts of the musculoskeletal system. The pathology is characterized by a violation of the functional ability of the heart, changes in the structure of blood vessels. The disease is dangerous due to the destruction of bones with little physical activity, disruption of neuropsychic activity, and problems with vision. Patients with signs of arachnodactyly need to undergo a detailed examination. The essence of treatment for such patients is a complex effect on the body - it will achieve harmonization and prevent problems associated with imperfections of the bones, heart, and eyes.

What are the symptoms of arachnodactyly (spider fingers)?

• Disproportional hands (fingers much longer than palms);
• Scoliosis;
• Phalanges – unnaturally long;
• The fingers easily bend back, which is explained by the increased flexibility of the cartilage;
• Deformation of the heel bones;
• Compressed chest;
• Narrow, elongated skull;
• Deformation of the pelvic bones;
• Abnormally high position of the kneecaps;
• Protrusion of the lower jaw;
• Extended nose shape;
• Flabbiness of the ears due to underdevelopment of their cartilage tissue.

Arachnodactyly is accompanied by pulmonary hypoplasia, visual impairment and the appearance of ophthalmological (eye) diseases, problems with the activity of the cardiovascular system. Despite the specifics of the “spider finger” syndrome, your health can be influenced by improving it through complex therapy. The disease has characteristic clinical manifestations, and, observing them, it is necessary to seek help as soon as possible. The actions of professionals will increase physical activity, improve overall well-being, and establish biochemical processes occurring in the body.

Marfan syndrome - symptoms and treatment

There is a constantly progressive development of the disease. In newborn children, elongated thin fingers on the upper and lower extremities and elongated thin limbs (dolichostenomelia) are detected.[1] In such patients, in addition to dolichostenomelia, the following is noted:

• increased physical development;
• lack of weight;
• elongated skull;
• long face;
• arachnodactyly (abnormally elongated narrow fingers);
• weakness and underdevelopment of the muscular system and fatty tissue;
• awkward movements.[3]

The skin has increased extensibility, loose joints. Most patients have a high arched palate, changes in the shape of the chest (funnel-shaped, keeled) and curvature of the spine (scoliosis in 60%, kyphosis (curvature of the spine with the formation of a hump), juvenile osteochondrosis), flattening of the arch of the foot, auscultatory signs of heart disease (murmurs) .[4] The length of the third finger is 10 cm or more (screening test for children 7-18 years old): the ratio of the span of the upper limbs to the length of the body increases.

Ophthalmological symptoms (myopia, subluxation of the lens in 75% of cases, its roundness or hypoplasia, retinal detachment) and asthenic signs (fatigue, lethargy) attract attention from the second year of life, changes in the shape of the chest appear after the age of four years, heart pathology and blood vessels are detected in preschool age.[1]

Almost all patients have heart and aortic defects. Frequent are femoral and inguinal hernias, damage to valves in the veins, their varicose veins, hemorrhagic syndrome, recurrent dislocations, damage to the pulmonary system (spontaneous pneumothorax, emphysematous dilatation of the lungs), prolapse of the kidneys.[2]

In a quarter of cases, a decrease in intelligence was registered; in half of the patients, disturbances in the emotional-volitional sphere were detected. Depressive states and neurocirculatory dystonia often appear.[3]

According to many studies, the vast majority of patients with Marfan syndrome note a deterioration in their emotional background, loss of a sense of joy and passion for professional activities, frequent mood swings, increased excitability, and a feeling of anxiety. The result of this is a decrease in social activity, a deterioration in the quality of life and a significant decrease in social adaptation.[3]

Such patients often experience tracheobronchial dyskinesia (disorder of the respiratory system) due to the weakness of the connective tissue framework of the bronchi. This is manifested by recurrent inflammatory diseases of the bronchopulmonary system, obstructive disorders, bronchial asthma, pulmonary emphysema (increased air content in the lung tissue).[4] There are complications that are manifested by the accumulation of air in the chest, accompanied by compression of the lungs and mediastinum (middle region of the chest), subcutaneous emphysema. There is an inadequate response to bronchodilators. Obstructive phenomena (obstruction) affect mainly the upper parts of the respiratory tract.[3]

Characteristic changes in the electrocardiogram have been described, including early ventricular excitation syndrome, premature ventricular complexes, instability of the terminal part of the ventricular complex in the posteroinferior leads.[3]

Rhythm pathology is most often manifested by right bundle branch block or mixed extrasystole.[6]

In patients with Marfan syndrome with pathology of the rhythm of cardiac activity and conduction, the syndrome of autonomic dysfunction often occurs of the vagotonic type, in the form of presyncope, fainting and asthenovegetative states, painful sensations in the heart, tension cephalgia (headache) and is often combined with psychopathological disorders.[4 ]

The digestive organs are also involved in the pathological process, which is manifested by dyskinesia (impaired motility) of the biliary tract with decreased motility of smooth muscle muscles, cardia insufficiency, hernial protrusions of the esophageal opening of the diaphragm, abnormalities of the bile ducts, dolichosigma (enlargement of the sigmoid colon), chronic gastroduodenitis (inflammation of the gastric mucosa and duodenum), dysbiosis (disturbance of normal microflora) of the intestine, changes in the pancreas.[3]

In patients with Marfan syndrome, acquired kidney anomalies are more common than in healthy people: increased kidney mobility, nephroptosis (prolapse of the kidney), pyelectasis (abnormal dilatation of the pelvis), increased frequency of kidney doubling.

What can arachnodactyly lead to, and does it need to be eliminated?

Arachnodactyly is a disease that is accompanied not only by physical, psychological, but also aesthetic discomfort. By daily visualizing a problem such as “spider finger” syndrome, a person experiences negative emotions, which subsequently adversely affects his overall well-being. The consequences that such a condition can lead to can be irreversible. To prevent this from happening, you should visit specialists in the field of Tibetan medicine, receive competent recommendations, due to which you will be able to relax, normalize the activity of organs and energy potential. Despite the fact that arachnodactyly is characterized by external manifestations and, at first glance, is incurable, the disease is subject to correction. The main thing is to entrust your health to professionals.

Iris diseases

Marfan syndrome is often accompanied by changes in the iris - this is due to increased tissue extensibility. Colobomas, hypoplasia or atrophy of the iris may occur with disruption of its diaphragmatic function. Coloboma is a defect manifested in the absence of part of the eye membrane. It is usually pear-shaped and located in the lower part of the iris. The earliest manifestations in people with Marfan syndrome include hypoplasia of the iris stroma, especially its pigmented pupillary border. The weakness of the dilator (dilator muscle) in patients does not allow achieving complete dilation of the pupil even with the help of mydriatics.

Treatment with a prophylactic

Recovery and prevention of back pathology is carried out through a complex of gymnastics, which is performed in a lying position, the Evminova preventive medicine helps with this. The selection of a complex for each person is carried out individually, depending on the physical capabilities of the human body. Externally, Evminov’s dispenser is represented by a wooden panel with movable handles located on two levels. The structure is secured to the wall using a cable and installed at angles.

During training on the simulator, two principles are provided aimed at restoring normal spinal function. During the first, controlled traction of the spinal column is performed, as a result of which its maximum unloading is ensured. The degree of extension is determined by changing the angle of inclination. During stretching, the intervertebral gap widens, compressed nerve roots are released, and the pain gradually disappears.

The essence of the second principle is that not only training occurs, but also strengthening of the muscles that support the spine at a horizontal level; this is normal anatomy. Training and strengthening are carried out using a special set of exercises that are performed with a minimum range of motion. During training, the small back muscles are strengthened, which actually form the muscle corset.

The earlier treatment is started, the greater the percentage of stabilization of the condition. The disease is congenital and genetic; it cannot be completely cured. A geneticist will help; you will have to consult him, especially if one of your family members (or ancestors) suffers from Marfan disease.

Treatment of arachnodactyly

Marfan syndrome can only be treated comprehensively using many drugs. In some situations, Evminov's prophylactic is used. They use drugs to restore the activity of the cardiovascular system, stimulating the brain, energy-tropic drugs, and antioxidants. All drugs are used strictly according to a specific scheme, which is specially designed for this pathology.

Physiotherapeutic treatment, which includes a magnet, complements drug treatment. The course consists of ten sessions, scheduled three times throughout the year. Electrosleep is indicated, the course of which consists of ten visits twice a year. For physical therapy, you can use Evminov’s prophylactic; gymnastics are performed for two weeks, four times throughout the year. The latter technique is indicated for pathologies of bones and joints; to maintain the heart, sanatorium-resort rehabilitation is used for 24 days throughout the calendar year. Evminova’s prophylactic can complement the treatment of arachnodactyly.

In addition, an operation is performed, plastic surgery of the chest deformity, an aneurysm of any part of the aorta is promptly eliminated, followed by plastic surgery. Subluxation or complete displacement of the lens is subject to surgical treatment. Approximately twice a year, sanitation of all sources of infection, in particular teeth, is indicated. With correctly prescribed treatment for the syndrome, if you use the Evminov prophylactic, up to 80% of the symptoms stabilize.

Treatment and its effectiveness for arachnodactyly are assessed by objective laboratory indicators. The baby's endurance for physical activity increases, and muscle mass gradually increases. The diameter of the aorta is stabilized, echocardiography helps with this. The function of external respiration returns to normal, fine motor skills improve, and emotional tone increases. Memory is restored, the child concentrates, and school performance becomes higher. In laboratory tests with arachnodactyly or Marfan syndrome, the level of lactic and pyruvic acid decreases.

Diagnostics

Spider fingers are a specific symptom that can be seen and distinguished from other pathologies visually. However, it requires more detailed diagnostics to determine hidden pathologies of internal organs. For this, a certain set of studies is prescribed:

• collecting medical history data for the whole family;
• general examination to identify body imbalances;
• ophthalmological examination to diagnose the fundus and detect lens subluxation;
• heart diagnostics using ECG;
• radiography, the results of examination of the hip joint are especially important;
• CT, MRI of the cardiovascular system;
• plain radiographs of the spine;
• other methods - according to indications.

Additional examination of blood vessels using angiography may be necessary. This is a method in which a contrast agent is injected intravenously, which is then visible on an x-ray. An accurate diagnosis can be made using genetic analysis.

Prognosis and prevention

The prognosis for arachnodactyly depends on the underlying disease of which it is a symptom. If pathology is detected promptly and treatment is started in early childhood, dangerous complications can be avoided. Complex therapy for homocystinuria is especially effective - in 70-80% of children with this diagnosis, significant improvements can be achieved by taking specific medications.

All pathologies that are accompanied by the appearance of spider fingers in a child represent a genetic malfunction. In 75% of cases, they are associated with a family type of inheritance, that is, the genes for this disease are present in one or two parents. When planning a pregnancy, you should consult a geneticist, especially if your relatives have a history of similar diseases.

Spider fingers are one of the symptoms of many diseases. It can appear alone or in combination with other pathologies. These disorders are genetic mutations and therefore cannot be treated. The patient's condition can be supported with symptomatic medications.

Clinical picture of the disease

Clinically, arachnodactyly appears as an abnormality in the structure and elongation of inert tissue. Visually, this is most noticeable in the shape of the hands and feet. Although some changes are noticeable already in the first days of a child’s life, the full extent of the disease manifests itself only by 3-4 years of age. The body length of newborns significantly exceeds the average statistical norm. Elongated and thinned fingers and toes often have a bizarre shape (curved), and the tendons, on the contrary, are shortened and rather poorly developed.

Causes

Currently, there are many theories regarding the causes of arachnodactyly. The most likely causes include a violation of the metabolism of the essential amino acid methionine, caused by a complete absence in the body or a deficiency of a number of enzymes, which, for example, includes the fibrillin protein.

In the overwhelming majority of clinical cases, the pathology known as “spider fingers” is hereditary in nature and is transmitted to descendants from first-degree relatives. As for the small number of cases where hereditary predisposition is completely excluded, the causes of the pathology may lie in spontaneous genetic mutations affecting seminal fluid or eggs.

A little history

The first to describe the disease, which later received the name Marfan, was the doctor Williamson in 1876. And the disease received its name in honor of a pediatrician from France named Marfan, who, after two decades, observed a child suffering from this pathology. It is known that famous people were ill, for example, Leslie Hornby, who became the prototype of the model industry standard. Also famous A. Lincoln, US President, violinist Paganini, as it turned out, had Marfan syndrome.

Then, as we studied, it became known: the disease is genetic in nature and is inherited. It is enough for one of the parents to be a carrier of the pathological Marfan gene syndrome for the offspring to be sick. In the absence of adequate treatment for Marfan syndrome, including surgery, the prognosis is poor. If no measures are taken, a person may not live to see thirty years of age.