Marfan’s syndrome – causes, symptoms, diagnosis and treatment

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Marfan’s syndrome is a genetic disorder of connective tissue with a varied course. The cause of Marfan’s syndrome is a mutation in the fibrillin-1 gene, which causes disproportionate body shape, weakened muscles and numerous problems with the organ of vision and the cardiovascular system. How is Marfan syndrome diagnosed and treated? What is the prognosis for this condition?

Marfan syndrome – disease characteristics

Marfan syndrome is also known under the abbreviation MFS, which comes from the English Marfan syndrome. This disease is genetically determined and affects connective tissue from the fibrinopathy group. A characteristic feature of Marfan syndrome is a very high phenotypic variability of the disease.

Connective tissue plays an extremely important role in the human body. It ensures that all cells are kept in the right places, so that the organs do not break down, and the person himself can properly grow, develop and move. Connective tissue is the building block of the heart, lungs, blood vessels, muscles and skin. Therefore, the most common symptoms of this disease are diverse and affect various organs and parts of the human body.

The mutation that causes the disease occurs in the fibrillin-1 gene and the inheritance of the disease is autosomal dominant. This means that Marfan syndrome is a disease acquired solely from one faulty gene, inherited from either parent or family member. Interestingly, however, 25% of cases are diagnosed that were not inherited from their parents.

Marfan’s syndrome causes symptoms that affect the entire body, but the most characteristic in the course of the disease are changes in the functioning of the eye, the musculoskeletal system and the cardiovascular system.

Marfan syndrome is diagnosed in 1-2 cases per 10 population.

What genetic diseases are diagnosed most often? Check: The most common genetic diseases. How are they made?

Marfan syndrome – medical history

Marfan’s syndrome is a disease that was first described in 1876 by the American ophthalmologist E. Williams. 20 years later, the French doctor Antoine Bernhard-Jean Marfan described skeletal abnormalities in a five-year-old girl, while introducing the concept of dolichostenomelii.

The same patient was examined 6 years later and diagnosed with severe scoliosis and finger contractures, but no changes in the eyes or the cardiovascular system were observed. As you can easily guess, the name of this disorder comes from the name of a French doctor, Dr. Marfan.

The following years brought new discoveries regarding the course and symptoms of this disease. In the second decade of the 1934th century, the German physician Friedrich Boerger was the first to describe a case of lens subluxation. In 50, an aortic dissection aneurysm was noted in its ascending part. On the other hand, in the XNUMXs, the pedigrees of many patients suspected or diagnosed with this disease were analyzed.

This analysis allowed to determine the diversity and variability of the clinical picture of the disease. In subsequent years of work on Marfan’s syndrome, the structural similarity between the ligaments of the eye lenses and the middle layer of the aorta was determined.

In 1971, Marfan syndrome was described as autosomal inherited disease. The disease was then called congenital arachnodactyly or spider-like fingers. In the 80s, fibrillin, or glycoprotein, was discovered. Defects in the structure of fibrillin turned out to be the basis and the main cause of the Marfan syndrome. Careful and detailed research has revealed the genes that are responsible for the structure of fibrillin. These genes are on chromosome 15. In Marfan syndrome, chromosome 15 is changed differently in each patient.

What should you know about genetic testing? Check: Do genetic tests predict disease? Scientists have examined the extent to which DNA determines our health

What are the causes of Marfan syndrome?

As already mentioned, Marfan’s syndrome is a genetically determined disease, therefore its main cause is defects or changes in the fifteenth chromosome on its long arm. Generally speaking, the cause of Marfan syndrome is damage to elastic fibers as well as disturbances in the formation of elastin and the basic substance of connective tissue.

Fibrillin-1 mutations have also been found in other genetic diseases, sometimes referred to as type I. Among them, there are inherited autosomal lens dislocation, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome or marfanoid bone abnormalities.

What should you know about connective tissue? Read: Connective tissue

Marfan syndrome – inheritance

Marfan syndrome is inherited autosomal. In 75% of cases, the disease is inherited from one of the parents, while in the remaining cases Marfan syndrome occurs de novo. Marfan syndrome is caused by a change in the structure of a gene located on the long arm of the fifteenth chromosome. The changes in the gene are usually spot changes.

Interestingly, over the years, more than 200 different mutations of this gene have been described in research and analysis. Therefore, when describing the disease, it is noted that Marfan syndrome is characterized by a large variety.

What is a chromosome and what should you know about it? Read: Chromosome – structure, types and functions in the body

Marfan syndrome – symptoms

Due to its phenotypic variability, Marfan’s syndrome can manifest itself in different ways. The clinical picture of the course of the disease will differ from patient to patient and may concern the skeletal, cardiovascular, respiratory and visual systems.

It is worth noting, however, that in most patients Marfan syndrome can be diagnosed already in infancy. A newborn with Marfan syndrome is slimmer than other babies and does not have proper muscle tone. In the following stages, it is stated that the child has impaired vision and a diagnosis of a heart murmur. A child with Marfan syndrome grows much faster than his peers – he is slender, has difficulty sitting down and running fast. The baby’s muscular system is very flaccid.

Children with Marfan syndrome are too tall to recognize. Newborn girls can reach a body length of 56 cm, while boys can reach a body length of about 58 cm. In adulthood, females are about 175-185 cm, while males are slightly over 190 cm. What is characteristic of Marfan syndrome is the apparent body disproportionate. First of all, the span of the arms is greater than the height of the whole body, while the lower part of the body is definitely longer than the torso. People with Marfan’s syndrome have long head, in addition, the cheeks are poorly formed and the lower jaw is abnormally small, which means that the tongue very often does not fit in the mouth.

Individual cases of Marfan’s syndrome may present a different clinical picture. That is why it is worth looking at changes related to specific systems and organs in the human body.

For more information on the phenotype, see this article: Phenotype – what should I know?

Marfan syndrome – clinical picture in the area of ​​the skeletal system

Marfan’s syndrome greatly influences changes in the skeletal system. High growth and disproportionately long limbs and fingers are a very visible sign of this disorder. It is worth noting that in the case of Marfan syndrome, changes in the chest area often occur, which may take the form of a chicken or shoemaker’s chest. Additionally, asymmetry of the sternum and chest is very common.

Patients diagnosed with Marfan syndrome develop numerous hernias and premature joint degeneration. Due to the too fast and rapid growth, patients struggle with scoliosis, including kyphoscoliosis, lumbar lordosis, spondylolisthesis or dolichostenomelia.

Marfan’s syndrome also affects joint mobility. Patients have articular contractures, flat feet, hammer-shaped toes or hyperextension of the knee joint. Patients with Marfan syndrome have reduced muscle mass and a small amount of body fat. Despite this, stretch marks on the skin are very common.

More information about the skeletal system can be found here: Skeletal system – structure and functions

Marfan’s syndrome – clinical picture of the organ of vision

Marfan’s syndrome has a very strong influence on the functioning of the eye. According to statistics, at least 60% of patients with Marfan syndrome have severe eye defects. Patients may develop enophthalmia, i.e. the collapse of the eyeball in the eye socket. A characteristic symptom, the most commonly diagnosed one, is lens dislocation.

Moreover, patients with Marfan syndrome suffer from myopia, astigmatism, glaucoma and cataracts. Also observed are poor iris formation, retinal detachment, and antimongoloid positioning of the eyelid slits.

What are the most common eye diseases? Read: Eye diseases

Marfan syndrome – clinical picture in the area of ​​the cardiovascular system

The cardiovascular system is especially prone to serious defects if a patient is diagnosed with Marfan syndrome. Patients suffering from Marfan syndrome very often also struggle with arterial hypotension, aortic valve insufficiency, mitral valve prolapse or congestive heart failure. Patients have episodic tachycardia or bradycardia.

In addition, premature calcification of the mitral annulus and dilation of the aortic trunk may occur. Aneurysms, including dissolving aortic aneurysm and ascending aortic aneurysm, are also possible.

How to properly care for a healthy heart? Read: Take care of your heart! Prevention and treatment

Marfan syndrome – clinical picture in other systems and organs

Marfan’s syndrome can also affect other systems and organs of the human body. In the case of the nervous system, the patient has an increased need for sleep, frequent fainting, dizziness, headache, coordination disorders or chronic fatigue.

Various ailments may also appear on the part of the respiratory system. Among patients there are cases of pneumothorax or dyspnea characteristic of emphysema. In the case of the digestive system, there are food absorption disorders, abnormal intestinal peristalsis, insufficiency of the gastric system or gastric mucosa ulcerations.

What should you know about emphysema? Read: Emphysema

Marfan syndrome – which doctor to choose?

Choosing the right doctor who will diagnose and start treatment of a patient struggling with Marfan syndrome is not the easiest thing to do. The youngest patients should first go to the pediatrician’s office, where the first consultation will take place. The pediatrician, together with a cardiologist, ophthalmologist and clinical geneticist, make the basic diagnosis. If acute symptoms occur in the course of the disease, visits to a cardiac surgeon will also be needed.

If the diagnosis of Marfan’s syndrome is confirmed, constant observation of the patient is necessary, especially if the disease has significantly affected the functioning of the cardiovascular system.

In some cases, a consultation with a neurologist and endocrinologist is also needed.

What is genetics? Check: Genetics – development, division. Genetics in medicine, agriculture and forensics

Marfan syndrome – research

The tests to be performed in the diagnosis of Marfan syndrome are as diverse as the clinical symptoms of the disease. The list of tests that will likely need to be done is very long. The most frequently prescribed tests by a doctor include:

1. auscultatory method of heart examination – the examination allows to identify defects and abnormalities in the work of the heart;
2. blood pressure measurement – once or with the use of a recorder;
3. ECG heart rate test;
4. echocardiography;
5. computed tomography – allows you to analyze the structure and structure of the aorta;
6. examinations at an ophthalmologist – examination of the anterior segment of the eye using a slit lamp, examination of the fundus, measurement of intraocular pressure or examination for changes in the retina;
7. computed tomography or x-rays of the skeletal system;
8. bone calcification examination;
9. anthropometric studies of the ratio of body length to arm span;
10. blood and urine biochemistry;
11. genetic testing for mutations in the gene.

How Much Can Genetic Testing Cost? Check: Genetic research – benefits, course, costs

Marfan syndrome – treatment

The most difficult information for patients to accept is that Marfan’s syndrome cannot be cured because it is an incurable disease. Pharmacological treatment, which is implemented in the course of the disease, is to alleviate symptoms, ailments and eliminate possible complications.

Pharmacological treatment consists in administering drugs that block the activity of the TGF B factor responsible for damage to the walls of blood vessels. However, it is worth remembering that this treatment is still experimental.

It is also possible to undergo surgical treatment, especially when there are cardiac disorders or pathologies of the aortic walls. The cardiac surgeon can perform surgeries that will eliminate the phenomenon of blood regurgitation in the heart. In addition, the doctor can surgically remove aneurysms or operate on dissection of the vessel walls.

The surgeon can also perform the surgery in cases of chest correction or severe posture defects. Surgical treatment may also be chosen by people who want to correct the mandible or maxilla. In the case of crowded teeth, their excess is removed and then an orthodontic appliance is placed.

What is worth remembering when using medications? Check: How to take medications effectively?

Marfan syndrome – rehabilitation and disease monitoring

Apart from pharmacological and surgical treatment, rehabilitation is extremely important for patients with Marfan syndrome. Rehabilitation exercises primarily focus on improving the skeletal and muscular systems. Patients perform fitness or competitive training. Swimming or training of the back muscles works well. Additionally, patients are offered the use of orthopedic corsets or the use of stabilizers.

Marfan’s syndrome is a progressive disease, therefore it is very important to monitor the patient’s health. First of all, the condition of the cardiovascular system should be monitored. Patients must constantly monitor blood pressure and heart rate, both while exercising and at rest. Patients struggling with Marfan syndrome must remember to visit a cardiologist or orthopedist on a regular basis.

What is worth knowing about rehabilitation? Check: Rehabilitation – a way to return to fitness

Marfan syndrome – what is the prognosis?

Mortality in people with Marfan syndrome is 20-40 times higher than in healthy people of the same age. In the past century, people with Marfan syndrome lived to an average of 30 years of age. Currently, thanks to much better medical care and many possibilities of monitoring their health, the life expectancy of patients has significantly increased.

What health monitoring devices should I have at home? Check: Thermometer, blood pressure monitor, heart rate monitor. Devices that will help you stay healthy every day

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