Marfan Syndrome

Marfan Syndrome

Marfan syndrome is an inherited connective tissue disease. Undetected, Marfan syndrome can be fatal suddenly and the number of undiagnosed cases is still believed to be high. The genetic disease is considered incurable, the treatment options are very limited and always aim to improve the quality of life of those affected.

What is Marfan Syndrome

Marfan syndrome is genetically determined and, statistically speaking, occurs in around 1 to 2 people in every 10,000 people worldwide. Geographical or gender-related differences do not exist, which has been clearly proven in studies. It is a so-called autosomal dominant inheritance, so the probability that a patient will inherit the disease is 50 percent. For hc – hypertensive crisis, please visit ablogtophone.com.

However, Marfan syndrome also occurs as a spontaneous mutation, so neither of the parents are ill. It is considered certain that a mutation in the gene for fibrillin is the cause of the disease. Fibrillin can be found practically everywhere in the organism and is an important structural factor in the elastic fibers of the connective tissue. If this basic structure is missing, the effects on the support function of the connective tissue are drastic, which is noticeable in disorders of all organs and organ systems. The disease is named after the Frenchman Antoine Marfan, a pediatrician.

Causes

The genetic causes of Marfan syndrome lie in specific gene sections. Estimates assume that around 8,000 people are affected in Germany alone. Due to the large number of undiagnosed or incorrectly diagnosed cases, the number of unreported cases is likely to be high. The cause of the development of the Marfan syndrome as a phenotype is a chromosome aberration and mutation in the so-called gene FBN1, which is localized on the long arm of the 15th chromosome.

So far, more than 500 possible mutation types are known, all of which can lead to the phenotype of a Marfan syndrome, i.e. to the clinical full picture of the disease. The FBN1 gene is responsible for decoding the microprotein fibrillin, which in turn is an essential component in the microfibrils of the extracellular matrix. The term extracellular matrix refers to all types of connective tissue. 75 percent of cases of Marfan syndrome are familial, with the remainder being due to spontaneous mutations.

Symptoms, Ailments & Signs

The multiple symptoms of the disease affect every organ and organ system and are therefore very complex. The musculoskeletal system, the cardiovascular system and the eyes are most frequently affected by changes in the connective tissue. The slender, long physique with conspicuously elongated extremities and fingers, the so-called arachnodactyly, is striking.

All large and small joints are often slightly overextensible due to the defective function of the connective tissue. The spine of those affected is deformed and takes on the form of a hunchback or an oblique position, scoliosis. The elbow joint typically has a reduced ability to extend due to muscle shortening. The heart valves consist largely of connective tissue and are not properly developed in Marfan syndrome.

Patients therefore often suffer from the consequences of aortic insufficiency or a vascular bulge in the aorta, aortic aneurysm. Due to the lack of fixation ability of the connective tissue in the area of ​​the eyes, those affected suffer from ametropia, most often from short-sightedness, myopia. Because the lens of the eye cannot assume its physiological position due to a lack of connective tissue fibers.

Other common symptoms of Marfan syndrome are completely underdeveloped muscles, skin stretch marks and a tendency to what is known as spontaneous pneumothorax. However, the visual diagnosis is only an insufficient diagnostic criterion, because the degree of expression of the Marfan phenotype can appear extremely discreetly.

Diagnosis & disease progression

The suspected diagnosis is already evident from the clinical appearance, but must always be confirmed by additional examinations. The final diagnosis is made according to the so-called guidelines of gentnosology, a catalog of diagnostic criteria that, in addition to the physical examination, also attaches great importance to genetic diagnostics.

In addition, gentnosology should ensure that Marfan syndrome is distinguished from other similar genetic diseases. In order to comply with all diagnostic criteria, it is recommended in the case of a suspected diagnosis to visit a clinic with experience in the field of Marfan syndrome. As a rule, an inpatient stay of several days will be necessary to secure the diagnosis and differential diagnosis.

Complications

Marfan syndrome usually causes the patient to have various restrictions and symptoms that affect every organ. First and foremost, the syndrome has a very negative effect on the circulatory system, so that heart problems can also occur. The eyesight of those affected is also significantly reduced by Marfan syndrome and the patient can become completely blind.

Not sailing also leads to paralysis and other sensory disturbances. Those affected often appear clumsy due to Marfan syndrome and are restricted in their everyday life. It can also lead to various psychological complaints and upsets. Young people in particular can suffer from severe psychological problems as a result of blindness.

As a rule, no causal treatment of Marfan syndrome is possible. The treatment is therefore always symptomatic and aims to limit the symptoms. It is generally not possible to universally predict whether the course of the disease will be positive. In most cases, however, the ability to see cannot be restored, so that those affected are dependent on visual aids in their everyday life.

When should you go to the doctor?

In the case of noticeable and not natural age-related changes in the connective tissue, a doctor should be consulted to clarify the symptoms. If there are peculiarities of the skin texture, irregularities in shape and color of the skin and disorders of the musculoskeletal system, there is cause for concern. Mobility restrictions, problems with vision or the cardiovascular system must be examined and treated. Decreased vision is a cause for concern. Marfan syndrome is characterized by myopia and irregular heartbeat. If you quickly become exhausted when performing physical activities or if you feel exhausted, it is advisable to consult a doctor. Sleep disorders,

People who have a particularly elongated physique should see a doctor. If there are abnormally long extremities in the proportion of the body, this is a sign of an existing disease that should be diagnosed. Hyperextensibility of the joints as well as deformation of various parts of the body are considered alarming and should be checked out by a doctor. Muscular disorders, the inability to fully extend a joint and problems performing everyday activities must be evaluated by a doctor. If unexplained skin stretch marks appear or if there is an accumulation of air in the upper body, a doctor is needed.

Treatment & Therapy

A causal, i.e. cause-related therapy of Marfan syndrome is not known, all forms of treatment are therefore symptomatic and aim to improve the quality of life of those affected. Interdisciplinary care is decisive for the success of the therapy, since all organ systems can be affected to a greater or lesser extent by the health restrictions.

Cardiologists, ophthalmologists, orthopedists and physiotherapists are of particular importance in the professional care of patients with Marfan syndrome. The aortic changes must be closely monitored, because above a certain degree of severity, there is an indication for surgery or heart valve replacement.

With adequate medical care, not only an acceptable quality of life, but also an almost normal life expectancy can be ensured. In the event of sudden changes in vision, an ophthalmologist should be consulted immediately. Lens removal or the fitting of wide-angle special glasses are not uncommon for Marfan patients.

Outlook & Forecast

The prognosis for Marfan syndrome is poor. Despite all efforts, the hereditary disease cannot be cured. A causal therapy is not possible because an intervention in human genetics is not permitted for legal reasons. Physicians and medical professionals focus on symptomatic treatment. Nevertheless, the therapeutic options that can be used are not sufficient to achieve complete freedom from symptoms.

If the disease progresses unfavorably, the patient may die prematurely. It is therefore crucial for further development when the diagnosis is made. In addition to the increased risk of developing a mental illness, the syndrome often causes problems with the cardiovascular system. Under difficult conditions, these can develop into a heart attack and thus into a life-threatening condition. In addition, patients with Marfan syndrome can become completely blind. As a result, the quality of life of those affected is enormously impaired.

If therapy is started early, improvements and thus a more optimistic prognosis can be achieved. Although no freedom from symptoms is achieved, secondary diseases of the cardiovascular system in particular can be prevented. In addition, positive changes in vision can be achieved with early diagnosis. The sooner therapy begins, the higher the probability that an average life expectancy will be achieved.

Prevention

Unfortunately, direct prevention is still not possible due to the fact that it can be inherited. Genetic diagnostics are still not practicable because of the large number of different mutations in a single gene. Diagnosis as early as possible, already in infancy with the help of genetic analyzes of the blood, is crucial for containing the chronic course of the disease.

With this early knowledge, those affected can then do a lot themselves to positively influence the course of the disease. This ranges from the right career choice to applications for a determination of a reduction in earning capacity to attending lectures or self-help groups.

Aftercare

Because treatment for Marfan syndrome is relatively complex and lengthy, follow-up care focuses on relieving symptoms. Those affected should try to develop a positive attitude despite the hardships. Relaxation exercises and meditation can help calm and focus the mind. This is a basic prerequisite for dealing with the disease in a sustainable manner.

In most cases, Marfan syndrome is associated with various ailments and complications, which usually have a very negative impact on and continue to reduce the quality of life of the sufferer. It is also not possible for the disease to be completely cured, so that the patient is always dependent on treatment by a doctor.

Since those affected are often no longer able to cope with their everyday life on their own and are dependent on the help of other people, it is possible that this reduces their self-esteem. Sometimes Marfan syndrome leads to mental upsets or depression, which is why it can help to clarify this with a psychologist. An accompanying therapy can help to get the mental balance out of the imbalance and to strengthen the well-being.

You can do that yourself

In the case of Marfan syndrome, the most important measure is regular check-ups by a specialist. The condition can cause serious complications if the patient is not closely monitored and the symptoms are treated medically. In addition, very limited self-help measures are available for the genetic condition.

It is particularly important that the child is observed at all times. If there are any noticeable symptoms, such as dizziness or tachycardia, a doctor must be consulted immediately. Physiotherapeutic treatment can be used to treat the malformations. In addition, those affected should be careful in everyday life to avoid serious injuries and fractures. Parents of children with Marfan syndrome should seek aids such as glasses, crutches or a wheelchair at an early stage. Sometimes the apartment has to be made accessible to the disabled in order to make everyday life easier for the person concerned.

Since psychological complaints usually also occur, comprehensive therapeutic advice is indicated. Those affected learn to accept the illness and its consequences and can work through the fears associated with it. You can also visit a self-help group.

Marfan Syndrome