Top Signs and Symptoms of Marfan Syndrome

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Marfan syndrome facts

Marfan syndrome is a disorder that is inherited through gene mutations. This disorder affects the connective tissues that are in the body. Because connective tissues are so ubiquitous in the body, Marfan syndrome may affect the strength, support, elasticity to tendons, cartilage, blood vessels and other parts of the body that are absolutely vita.

The majority of cases of Marfan syndrome have symptoms that affect the connective tissues due to an abnormal chemical makeup. This is a syndrome that does not only affect one part of the body; in fact symptoms can be felt in the bones, eyes, skin, lungs and nervous system. Most importantly, it can also affect the heart and blood vessels as well.

Marfan syndrome does not discriminate in carriers and affects people of all races and ethnic backgrounds. It is a fairly common disorder and affects between 1 and 5,000 Americans annually. If this syndrome goes unchecked, there may be extensive complications that are involved. Among the most dangerous complications, there may be valve prolepses that will result in rapid and irregular heartbeats as well as shortness of breath.

In addition, the condition may also succeed in rupturing inner layers of the aorta, which is the main artery that carries blood from the heart to the rest of the body. When this situation happens, it is possible that it will be deadly and emergency surgery would need to take place.

What is Marfan syndrome?

The way that Marfan syndrome occurs is if there is a misfolding of the protein fibrillin-1, this will ultimately spur the development of Marfan syndrome in an individual. This is a genetic disorder from the malfunctioning gene FBN1 and can be inherited when the family passes on offspring and transmits the syndrome to their children. More specifically, Marfan syndrome affects the connective tissues throughout the body, since connective tissues are ubiquitous and hold together most internal organs.

Because of this factor, the condition more apt to spread throughout the body and can be felt in many different areas of the body where connective tissue exists. There are serious repercussions to Marfan syndrome especially when the disorder affects the heart valves and aorta. If this is the situation, be sure to seek assistance and medical attention from a doctor since the effects can be fatal.

The way that Marfan syndrome is developed is when the Fibrilin-1 protein forms fibers in connective tissues. This addition of the protein in connective tissues contributes to cell signaling activity while also providing structural support. The protein then binds to the transforming growth factor beta, which essentially has major negative effects on muscle development if the organic body process is mis-regulated. There is strong evidence that the tissues are weakened when there is excessive transforming growth factor beta activity in the connective tissues, which is especially prone to develop in the lungs, heart valves, and aorta.

What causes Marfan syndrome?

The causes of Marfan syndrome are entirely genetic and are reliant on a gene mutation that occurs naturally in the body. This occurs when the essential component of connective tissue, Filbrilin, mutates in the body. Filbrilin is the component within connective tissues that allows for strength and elasticity to occur in the body. The effects of Marfan syndrome are far reaching and can take place in many parts of the body because connective tissues are the materials in the body that holds together all of the structures of the body including the organs, cells, and tissues.

The gene mutations that occur with Marfan syndrome are inherited from a family member when passing on the genetic code, and are largely unavoidable. Marfan syndrome is a hereditary disorder of connective tissue that is frequently occurring in optical and cardiovascular defects, and it results in abnormally long and thin digits. The chance that an offspring will inherit Marfan syndrome from a patient who is already suffering from Marfan syndrome is at a 50% risk. Because of the ease that the disorder is passed on the offspring, it is important to note the common occurrences in order to be well informed of the risks at hand.

Another component of Marfan syndrome is that the defective fibrilin gene results in bones growing larger than is normal. This results in having abnormally long limbs which is one indication that Marfan syndrome is occurring in a patient. In addition to long limbs, long fingers and toes (arachnodactyly) are other indications that Marfan syndrome is at hand. In addition, Marfan syndrome can be experienced in different ways depending on the individual. These ways may be apparent in a range of symptoms that have a gradient scale of severity, which means that individuals can be mildly affected by Marfan syndrome while others experience more serious symptoms.

Top Signs and Symptoms of Marfan Syndrome

How is Marfan syndrome diagnosed?

Since the symptoms of Marfan syndrome vary significantly from each individual, it is a difficult procedure to diagnose Marfan syndrome. This is because there is a wide range of affects that occur because of Marfan syndrome, in which pain or irregularities may occur in many different areas of the body. In addition, the severity of the symptoms are experienced at many different levels, so it is difficult to pinpoint and located the diagnoses immediately upon finding assistance from a doctor.

The best ways to diagnose Marfan syndrome is by undergoing a genetic test, which will definitely confirm the syndrome and aid in the transparency of the actions of the body. It is to be noted, however, that the process of undergoing a genetic test is expensive and time consuming. The gene that affects Marfan syndrome can mutate in over 1,000 different ways, which makes the genetic test challenging though it is not impossible.

In addition to a genetic test, it is possible to be diagnosed with Marfan syndrome via a thorough physical examination. There are some key indicators that an individual has Marfan syndrome based on several physical cues. Among the physical cues that are signifiers of Marfan syndrome include being tall and having abnormally long and slender limbs. Other signifiers can be heart defects or palpitations or even lens dislocation, where the lens of the eye falls into an abnormal position.

Marfan syndrome does not typically develop during childhood, so the diagnoses of Marfan syndrome may not be identified until the teenage years at its earliest stages. Apart from genetic testing or physical examinations, it is advised to have a detailed assessment of an individual’s medical and family history in order to look for signifiers of family members that may have had Marfan syndrome in the past. Because of the inherited nature of Marfan syndrome, it is likely that one will find answers in their family medial history.

When Marfan syndrome is suspected, there are some specific tests that may be used to verify if the syndrome is taking place. Among these tests include a chest X-ray, an electrocardiogram, or an echocardiogram which all can be used to evaluated changes in the heart and blood muscles. Especially if there are any heart rhythm problems, these tests can be used to verify further if there are complications with Marfan syndrome and will aid with the diagnoses of the disorder. The scans may also check the lower back for dural ectasia signs, which is a back problem that occurs commonly in individuals that are carriers of Marfan syndrome.

In addition, a slit lamp eye exam may check for dislocated lenses in the eye, which is also a common result of Marfan syndrome. While there are many different possibilities of detecting Marfan syndrome, it is important to get a comprehensive analysis of the body in order to detect the main symptoms of Marfan syndrome. There is a better chance at verifying Marfan syndrome properly especially if there are analyses’ and tests that take place on various parts of the body.

What types of doctors treat Marfan syndrome?

Various different types of doctors and physicians should treat Marfan syndrome, especially because there are a number of body systems that may be affected. In order to get a comprehensive analysis and treatment, consider seeing several specialists in the event you are suffering from Marfan syndrome. Among the types of specialists that are able to help, a general practitioner or pediatrician is recommended in order to oversee the health care on a routine basis. The general practitioner or pediatrician is then able to recommend other physicians to help with more specific issues of the body.

An example of a specialist who should be among the team that helps treat Marfan syndrome is a cardiologist, or a heart disorder specialist. This is because the heart is affected in Marfan syndrome, and the heart valves or aorta are especially at risk. In addition to a cardiologist, an orthopedist should also be considered in the event that Marfan syndrome tends to enlarge bones in the body, which makes them irregular and may need special regulation.

Ophthalmologists are also among those who should oversee patients with Marfan syndrome, since eye disorders are common among Marfan syndrome patients. It is possible that some symptoms are not experienced in certain Marfan syndrome patients, which means that many of these specialists may not be relevant to treating a specific individual with Marfan syndrome who are not experiencing irregularities in any of the themes above. However, if one is looking for a comprehensive scope of the disorder, a geneticist may be recommended as the root of the problem with Marfan syndrome is a mutation of genes.

What treatment options are available?

There is no cure for Marfan syndrome because it is a genetic disorder. This is an unavoidable syndrome unless the scientists develop a way to change and identify the specific gene that results in Marfan syndrome before birth, which is highly unlikely. Still, there are many treatment options available that are able to minimize complications. At times, complications may even be prevented with these treatments and allow for maximum proficiency of treating Marfan syndrome, depending on the approach that the doctors administer. Each treatment is dependent on the individual’s experiences with the syndrome, and so there is no one solution to treat Marfan syndrome. Each treatment should be designed by specialists that are depending on the individual’s needs with Marfan syndrome.

To break it down further, there are treatments available for three different tiers that can be affected by Marfan syndrome. Among these tiers are skeletal, eyes, and heart and blood vessels. Concerning skeletal treatments, it is recommended to undergo annual evaluations in order to detect changes in the spine or sternum. Especially during adolescence, this evaluation is necessary in order to prevent disfiguration or malformation of the spine. This is important in times of rapid growth because if precautions are not taken, heart and lungs may function improperly and exacerbate complications down the line.

In order to treat potential issues with the spine, it may be recommended by an orthopedic to be fitted with a brace. In extreme cases, surgery may also be recommended in order to limit damage or disfigurement. In accordance to the eyes, the eyes require regular examination as well in order to detect any vision problems that may be associated with Marfan syndrome. While eyeglasses or contact lenses may be a treatment to issues caused by Marfan syndrome, it also may be necessary to undergo surgery in order to further treat the problem at hand. In addition, it is vital to keep track of the heart and blood vessels for an individual with Marfan syndrome.

During the regular checkups, the size of the aorta should be examined as a way to make sure the heart is working properly. When there is a potential problem with the heart that is identified and treated early, this will dramatically decrease future complications and circumvent long-standing issues that are susceptible to Marfan syndrome. In the event of having heart valve problems, drugs such as beta-blockers may help and decrease stress on the aorta. When all else fails, surgery may be administered in order to repair or replace a valve.

In addition to regular check ups and preventative treatments, it is also possible to treat Marfan syndrome with medications as well. A beta-blocker may be prescribed by the doctor in order to decrease pressure within the arteries and to limit the force of how the heartbeats. This will succeed in preventing or slowing the enlargement of the aorta, and is best prescribed when the Marfan syndrome is in its infancy in order to prevent problems in the later years. In the event that an individual has asthma, it is not recommended to take a beta-blocker due to the medication’s side effects.

When taking a beta-blocker, it may induce drowsiness, weakness, headaches, slowed heartbeat, swelling of hands or feet, and trouble with breathing or sleeping. If it is not recommended by a general practitioner to take these medications, a calcium channel blocker may be recommended in its place. A calcium channel blocker is not as efficient as a beta-blocker, but is commonly prescribed for those that have complications with Marfan syndrome. In addition, losatran is another medication that may be prescribed for Marfan syndrome as it is a receptor blocker that is successful in lowering the blood pressure.

In situations where surgery is recommended, it is typically decided in events that the size of the aorta is irregular and needs to be treated immediately. Other factors should be taken into consideration before surgery as well, such as the rate of aortic growth, age, height, gender, and family history of aortic dissection, as each variable will determine how the patient responds to surgery.

Common surgeries for Marfan syndrome involve replacing the dilated portion of the aorta with a graft. A graft is inserted into the weak area of the blood vessel and is made from a piece of man-made material. Still, surgery is not a one-time fix, and generally needs follow-ups for the duration of the patient’s life in order to prevent future complications associated with Marfan syndrome.

What are some of the emotional and psychological effects of Marfan syndrome?

Beyond physical effects, Marfan syndrome may cause social, emotional, and financial stress ,which can be recognized as in integral part of being diagnosed with a genetic disorder. When diagnosed with Marfan syndrome, a series of adjustments should be made with concerns to outlooks and lifestyles. Common emotions may be anger or fear when there is a diagnoses of Marfan syndrome, and feelings of uncertainty about the future arise when considering the possibility of passing on the disorder to future offspring.

The emotional stress caused by Marfan syndrome is not limited to the individual diagnosed with the disease, however. The entire family may be affected with emotional stress. It is common that the parents or siblings of an individual that is diagnosed with the disorder experience feelings sadness, anger, or guilt.

Children that are diagnosed with Marfan disorder may have a particularly difficult adjusting to lifestyle changes, as they may not be fully aware or accepting of the circumstances. Whether the carrier is an adult or child, it is recommended to be given appropriate medical attention and accurate information about the disease. Above all, social support is vital and will make living with the disease more manageable. Genetic counseling is available to individuals that have the desire to have access to helpful information about the disease as well as aid with coping methods for potential impacts on future generations.

What research is being conducted on Marfan syndrome?

With modern developments of medicine, there is a lot of research happening in the realm of Marfan syndrome, and effects of these researches are having a significant impact on treatments and understanding of the disease. Since the 1970’s, the life span of individuals with Marfan syndrome has increased, which is attributable to the research and methods of treatment that improved since those times. Many of the research involved includes a plan that aims to identify the precise factors and conditions of cardiovascular manifestations that are a result of Marfan syndrome.

In addition to cardiovascular manifestations, there is further research being done to study skeletal manifestations as well. Further research is being done with large family groups that are affected by Marfan syndrome, which helps with finding answers about the genes themselves in terms of how they mutate and patterns. In the lab, scientists also continue researching Marfan syndrome with mice that carry mutations of the same fibrillin-1 gene that affects humans. These animal studies provide further information for possible gene therapy and offers insights to the nature of the disorder as well.

Because of all the research being done, there have been breakthroughs in the scientific community. Many of these breakthroughs include medicinal discoveries that can help treat Marfan syndrome. Among some of the findings was losartan, which was found to be beneficial in reducing aortic anuerysms in mice models. Because of this breakthrough, research is now being conducted to determine whether humans can consume losartan in order to receive the same benefits. The research that is conducted for Marfan syndrome is ongoing and ever evolving, which will ultimately help with treatments relatable to Marfan syndrome.

Where can people find more information about Marfan syndrome?

There are many resources out there in order to help you become better informed about the risks and treatments of Marfan syndrome. Here is a brief list of references that one can utilize in favor of knowing more about the disease.

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
National Institutes of Health

1AMS Circle
Bethesda, MD 20892-0001

National Human Genome Research Institute (NHGRI)
National Institutes of Health

NHGRI Genetiv and Rare Diseases Information Center

National Marfan Foundation (NMF)

National Organization for Rare Disorders (NORD)

March of Dimes Birth Defects Foundation

American Heart Association

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U.S. Food and Drug Administration

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