The All-In-One Guide to Marfan Syndrome

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To go about the day, we need all our body parts and organs working in tandem with one another. To do this, they need to interlink and communicate with one another. Al the parts of the body are supported by the connective tissue. The connective tissue is responsible for growth and development. Marfan syndrome is a condition that affects the body in such a way that you have an abnormal connective tissue.

Marfan syndrome affects some of the most important organs in the body, including connective tissues of the eyes, blood vessels, the heart, the lungs, bones and the covering for the spinal cord. Given the organs that it affects and the fact that it can spread all through the body, Marfan syndrome can cause severe complications, and in some cases, this can be fatal.

What is Marfan Syndrome?

Since Marfan syndrome is a genetic disorder, it develops as a result of a mutation in the gene that controls the production of fibrillin in the body. Fibrillin is an important protein in the connective tissue. Because it is a genetic disorder, people who have Marfan syndrome have a high likelihood of having inherited it from their parents, and also have a high likelihood of passing it down to their children.

Despite the fact that most people inherit Marfan syndrome from their parents, there is a 1 in 4 chance of getting someone who might not have inherited Marfan syndrome from their parents. However, they become the first person in their family tree to have the disorder and pass it on to their kids.

There are rare cases where Marfan syndrome is not inherited. In such a situation, fibrillin might mutate either in the sperm cells or in the egg. The altered gene will, therefore, be passed on to the baby. There is, however, a very low risk that the siblings to this child might have Marfan syndrome.
This condition targets the long bones in the body. As a result, some of the traits and signs that are indicative of Marfan syndrome include the following:

  • Long flexible joints like toes, fingers, legs, and arms
  • Thin, but tall build
  • Poor eyesight
  • Scoliosis – curved spine
  • Heart problems
  • Sleep apnea
  • Flat feet
  • Overcrowded teeth

You will notice that the symptoms vary from one individual to the other. Even within the same family where members have Marfan syndrome, there is a chance that some members might exhibit extreme symptoms, while others might have very few symptoms. This is because other than the fact that the family members share a genetic makeup, the genetic mutation affects each person differently, causing different symptoms.

There is currently no cure for Marfan syndrome. However, there are treatments in place that can help you slow down the complications or delay them altogether. Treatment for Marfan syndrome includes therapy, surgery or using medicine. Considering the impact that Marfan syndrome has on the bones and joints, you might want to consider limiting activities that require you to exert yourself too much or change the way you go about them.

Your doctor will examine the way your body is affected by Marfan syndrome, and from this examination, they will recommend medication unique to your symptoms.

In the US, researchers estimate that 1 in 5,000 people might have Marfan syndrome. However, there is no specific predisposition to this condition. Anyone, male, female, young or old, irrespective of their racial makeup, might be vulnerable.

There have been advancements made in the recent past which have made it easier to detect and treat Marfan syndrome as early as possible. As a result, having Marfan syndrome is no longer a life sentence. In fact, when detected early enough you can start the treatment to manage the condition so that you live and enjoy a long and productive life.

Symptoms and Complications

Marfan syndrome affects the connective tissue. It can, therefore, affect any part of the body. Because of this reason, the symptoms might be different from one person to the other, even within the same household. By affecting the major organs, Marfan syndrome can be fatal. This is why it is important to note the symptoms as early as possible, so you can seek medical attention.

People who have Marfan syndrome tend to have stretch marks on their skin. However, stretch marks are also synonymous with a host of other reasons, including weight loss, so you need to get examined by a doctor just to be certain and rule out any possibilities. The stretch marks will show up on the abdomen, thighs, breast, shoulder, buttocks and lower back.

Take note that having these symptoms does not necessarily mean that you have Marfan syndrome. You might also be suffering from other disorders of the connective tissue.

Complications Associated with Marfan Syndrome

Since this disorder affects different parts of the body, there are different complications that might arise in case you have Marfan syndrome. With the blood vessels and the heart being the most severely affected.

Heart and Blood Vessels. Of all the complications associated with Marfan syndrome, the most serious involves the blood vessels and the heart. When the aorta is affected, it can overstretch and become weak in the process. This is a condition that is referred to as an aortic aneurysm or aortic dilation. Remember that the aorta is the largest blood vessel that transports blood rich in oxygen all over the body.

A weakened aorta has a high propensity to leak blood or burst altogether, a medical condition known as aortic dissection. Aortic dissection is serious. In fact, the affected person might suffer major heart problems, which might be fatal.

Aortic dissection is painful. You will experience pain either in your abdomen or at the front or back of your chest. In some cases, the pain appears to be moving up or down. If you notice these symptoms, it is best to get in touch with an emergency team as soon as possible.

This condition also affects the mitral valve. The mitral valve is tasked with controlling the flow of blood between the lower chambers and upper chambers of the left side of the heart. With Marfan syndrome, you might end up developing mitral valve prolapse. When you develop mitral valve prolapse, the flaps in the mitral valve are unable to close properly. They become floppy. Because of this, you will experience continuous chest pain, palpitations and in some cases shortness of breath.

Your doctor will have to examine you, use a stethoscope to listen to the heart. They will be paying attention to listen to any heart murmur produced with each heartbeat.

Eyes. Marfan syndrome can also give you severe eye problems. More often, you might have dislocated lens in either or both of your eyes. The role of the lens is to focus light to enable you to see properly. With Marfan syndrome, your lens will either shift to the side, up or down. This is usually one of the first symptoms that someone might have Marfan syndrome.

Apart from that, you might become nearsighted, develop early glaucoma or cataracts. There are people who have reported a detached retina.

Nervous System. The spinal cord and brain are surrounded by fluid that acts as support. The fluid is in turn covered by a substance known as dura. When you have Marfan syndrome, the dura will be stretched beyond its limits and might become too weak to offer the necessary support that your brain and spinal cord needs. This is a condition referred to as dural ectasia. As you grow older, it becomes worse, and as a result, your spine will become weaker.

The common symptoms that you might have dural ectasia include abdominal pain, lower back pain, numbness in your legs and headache. As you can see, these are also symptoms that are common to a host of medical conditions. Because of this reason, you should get in touch with your doctor so that they can assess and rule out the possibility of Marfan syndrome.

Lungs. With Marfan syndrome, you are always at risk of your lungs collapsing suddenly. This is a condition referred to as pneumothorax. Air will build up in the space between the chest wall and your lungs. If the buildup is too much, the lungs eventually collapse. How do you tell whether you have a collapsed lung? You will suddenly be feeling pain on one side of the lungs, and short breath.

There are other conditions like pectus excavatum and scoliosis that might also make it difficult for your lungs to expand properly, giving you breathing problems. There are patients who have reported early emphysema, given that the abnormality affects the lung tissue.

Marfan syndrome has also been associated with sleep apnea. For someone who has Marfan syndrome, other factors that might increase your risk of developing sleep apnea include the shape of your teeth, oral cavity or your face. When you are sleeping, you will experience shallow breaths. When going about your normal daily schedule, sleep apnea induces involuntary pauses in your breathing patterns.

You will experience these pauses more than 10 times an hour, in some cases even up to 30 times. The pause can last a few minutes or just a few seconds in most cases. When you resume normal breathing, you make a choking sound or a loud snort.

Diagnosing Marfan Syndrome

The first thing your doctor will do is to study your medical history. After this, a physical exam will follow, then from the test results, they can determine whether you have Marfan syndrome or not. The doctor will also consult the Ghent criteria, guidelines that help them diagnose Marfan syndrome.

One of the challenges with Marfan syndrome is that it can be very difficult to diagnose. This is because the symptoms are often similar to the symptoms of a lot of other disorders affecting the connective tissues. From the moment you are diagnosed with Marfan syndrome, the first precautionary measure you should take is to have your immediate relatives screened for this disorder too. Immediate relatives mean your parents, children, and siblings.

Marfan syndrome can be diagnosed by an orthopedist, or any other doctor other than your personal doctor. In some cases, your doctor can recommend you visit a cardiologist or a geneticist. Geneticists are better placed to address the risk of Marfan syndrome, given their expertise in hereditary diseases. Cardiologists are heart experts. These are the two types of doctors who should have the best experience in addressing the challenges of Marfan syndrome.

When you visit a geneticist, they will need to collect information about the rest of your family members. They can also recommend you visit other specialists like an ophthalmologist, and an orthopedist, other than your cardiologist. Based on the findings of these experts, your geneticist can then correctly inform you whether you have Marfan syndrome or not.

Family Medical History

The doctor has to look into your family medical history to understand the genesis of your Marfan syndrome. Some of the things that your doctor will want to find out include whether you have been having any spinal concerns, problems with your eyes, or if you or anyone in your family has heart disease.

These questions apply even to family members who might have died, especially those who died suddenly without showing any signs of sickness.

Physical Examination

Simple tests will be carried out during the physical exam. The doctor will be looking at the shape of your feet, whether your spine is curved or not, and even listen to your heartbeat. The following are some diagnostic tests that you might be subjected to:

Echocardiography. This is a painless test that uses sound waves to create pictures of your blood vessels and your heart. It shows the doctor the shape and size of your heart. It also shows the diameter of your blood vessels, especially the aorta. This test also shows the doctor whether the chambers and valves of your heart are performing optimally or not.

Slit-Lamp Exam. You will visit an ophthalmologist for this test. They use a microscope with a light to study your eyes. This is to determine whether your lens is dislocated, whether you have a detached retina, or if you have developed cataracts, early signs that you might have Marfan syndrome.

MRI or CT Scan. An MRI scan uses magnets and radio waves to show pictures of your tissues, and organs. A CT scan, on the other hand, will be used to determine whether you have dural ectasia.

Ghent Criteria. Each of these tests on their own cannot be used to convincingly diagnose Marfan syndrome. Because of this reason, you have to carry out a number of tests. Other than that, doctors have a set of guidelines, the Ghent criteria that they use to diagnose this condition.

Ghent criteria are divided into two; major and minor criteria. Major criteria are the symptoms that are unique to people who already have Marfan syndrome. Minor criteria, on the other hand, are symptoms that are common to so many people.

The doctor will assign a scoring system depending on the type and number of criteria present to help in diagnosing Marfan syndrome.

Genetic Testing. You will need to submit blood samples for testing. This is to help determine whether there are genetic changes in your samples. Since there are different genetic changes that can be attributed to Marfan syndrome, it is almost impossible to diagnose Marfan syndrome with one blood test. The complete diagnosis involves a blood test among other tests.

Living with Marfan Syndrome

One of the best things about advancement in technology is that it has made it easy to manage conditions like Marfan syndrome. With early diagnosis, you have a better fighting chance and can live a normal and fulfilling life. In fact, if the diagnosis is done as early as possible and you manage your condition well, you will live out the average lifestyle of a normal healthy person.

Once you have been diagnosed with Marfan syndrome, you should sit down with your doctor and discuss the options you have in terms of ongoing care, and physical activity that will not put your life at risk.

Managing Your Heart

This is one organ that poses the biggest risk to your life if and when you have Marfan syndrome. You should try and avoid anything that exerts undue stress on the heart. Avoid unnecessary actions or situations that might cause high blood pressure. Monitor your pulse and engage in activities that will calm you down.

If you have been participating in strenuous activities, stop. It might be time for you to consider starting meditation or yoga classes. Keep a healthy diet. Dieting goes a long way in your health. Stay away from foods that might add plaque to your arteries. If possible, work with a nutritionist, or ask your doctor to recommend the right diet for you.

While still on your diet, you can make some small changes that go a long way. Some of these include eating well and getting sufficient sleep. You also need to consider replacing full-fat foods in your diet with low-fat foods. Reduce your intake of salt. Since you might struggle with this, squeeze lemon juice in your food when cooking, vinegar or herbs to add flavor.

Talk to your doctor about a diet that lowers blood pressure. You will be surprised at how effective this can be.

Emotional Support

Living with conditions like Marfan syndrome can take a toll on you. It gets worse if you have read about some of the disheartening experiences that other people have gone through with Marfan syndrome. It is possible to be stressed, suffer depression and anxiety because of this. However, this should not be the case.

You have to be positive about life if you are to hack this. Try and speak to a counselor. In case you are under intense pressure and are very depressed, your doctor might recommend some medicine that will help you improve the quality of your life, and ease your frustration.

Another option you should look into is the possibility of joining a support group for patients around you who live with Marfan syndrome. You might be surprised to find a lot of people who are doing just fine, managing their condition well. This can give you a good boost and help you have a positive outlook on life. Your doctor can recommend a good support group in your neighborhood.

To stay and feel positive, you should look into ways of making the most of your challenges. Marfan syndrome might cause physical symptoms. Because of this, you can look into ways of working around this. Dress your figure, for example. Go online and look for fashionable attire for your physical stature.

More importantly, talk to the people around you. Talk to your friends and family members about what you are going through so that they have a better understanding. Their support will always go a long way in making you feel better, and coping with Marfan syndrome.

Dealing with Emergencies

Patients who have Marfan syndrome are often at risk of aortic dissection. This is a life-threatening condition and might be fatal. Alert people around you and always call for emergency as soon as you notice the symptoms of aortic dissection. These symptoms include severe pain at the back or front of your chest, and in your abdomen. If this happens, your aorta has raptured and is probably leaking blood.

You also need to get an emergency alert card. This card has a lot of information about your health that will make it easy for anyone who attends to you in an emergency situation to know what to do. These cards are available from the National Marfan Foundation.

Care and Management

People who have Marfan syndrome need to consult the doctor often. You should coordinate with your doctor and any other medical expert to help you manage the condition better. Do not miss your appointments with the cardiologist, orthopedist, and an ophthalmologist. Schedule an annual checkup.

Have you had a composite valve graft in the past? If so, inform the dentist or any doctor that you are visiting. This surgery increases your risk of endocarditis. This is an infection that affects the inner lining of the heart valves and chambers.

More importantly, always take your medicine according to the prescription the doctor provides. Unless otherwise advised to stop some treatment, perhaps because of complications, only follow the guidelines of your doctor.

Quit Smoking. In case you have been a smoker, it is time for you to stop. Smoking affects your lungs badly. Marfan syndrome, on the other hand, increases your risk of lung problems. If you are a smoker, your risks of developing lung problems associated with Marfan syndrome are even higher. Where possible, try and stay away from secondhand smoke too.

Be Active. Discuss with your doctor some of the physical activities that you can engage in. Not all the activities are safe for you. There are some activities that put a lot of strain on your heart, thereby increasing your blood pressure. You should think about activities that encourage weight management, protecting your bones, and alleviating your emotional being.

Stay away from strenuous activities like lifting weights or contact sports. Some of the activities that the doctor can recommend include hiking, tennis, golf, swimming or brisk walking. These are low or moderate impact activities and they will go a long way toward helping you feel better.

In case your child has Marfan syndrome, talk to the doctor about physical education in school. Discuss this with the teachers so that they can work with your doctor to determine the safest activities that your child can participate in.

Pregnant Women

If you are pregnant and have Marfan syndrome you will still have a normal pregnancy and even deliver the normal way. You are, however, exposed to more risks than other women who might have Marfan syndrome. Pregnancy exerts additional strain on your heart. Because of this reason, you have a high risk of aortic dissection.

If you are planning to have a baby, visit an obstetrician who understands your current predicament with Marfan syndrome. Other than that, ask for recommendations to a high-risk pregnancy doctor.

Apart from the risks to your physical health, there is a 50/50 chance that your child will have Marfan syndrome. However, even if they inherit this from you, their symptoms might not be the same as yours.

Schedule appointments with your doctors when planning your pregnancy and during the term of your pregnancy. This way, you can understand the risks you and your baby might be exposed to and options available to you. Your doctor will also help you choose a delivery method that will be easier on your body.

Marfan Syndrome Treatment

There is currently no cure available for Marfan syndrome, other than treatments that prevent you from developing complications. The treatments will help you manage Marfan syndrome better if you start as early as possible. Since Marfan syndrome affects different parts of the body, the treatment method that will be recommended by your doctor depends on the symptoms and signs that you are showing.

Surgery

If you are at risk of aortic dissection after your aorta has stretched beyond its limits, your doctor can perform surgery to replace the affected section of the aorta or to repair it. You can be scheduled for a composite valve graft. In this case, the affected part of the aortic valve or the aorta is removed. This is then replaced with a graft (man-made tube).

The doctor can also perform an aortic valve-sparing surgery. This is recommended for people whose aortic valve is working fine. The doctor will insert a graft to replace the section of the aorta that is enlarged. This does not affect the aortic valve.

After such procedure is carried out, the doctor will recommend blood thinners to help you heal faster. Blood thinners or anticoagulants prevent the formation of blood clots on the artificial aortic valve. Take note that you will be taking this medicine throughout your life. In the case of a valve-sparing surgery, the doctor will prescribe blood thinners only for a specific duration of time.

People who have had a composite valve graft have a higher risk of developing endocarditis. You will be advised to take antibiotics before you have a procedure performed that might increase your risk of developing endocarditis.

You have to go for an MRI or CT scan as required to determine whether your aorta is in good shape.

Treating the Heart

The most common problem associated with Marfan syndrome is an aortic aneurysm (aortic dilation). This is a serious problem and might even cause death. Your doctor will administer medicine to slow down the rate of dilation. If this does not work, surgery, as described above, might be required to replace the part of the aorta that is affected before it ruptures.

Patients who have Marfan syndrome are often advised to go for routine checks to determine the condition of the aorta and heart valves.

Medication

You will receive beta blockers. These are medicines that make your heart pump slower or with less force than usual. The aim is to ease the strain on your aorta when transporting blood to different parts of the body.

There might be side effects to using beta blockers. You might experience nausea or feel tired. If this were to happen, you can be given an ACE inhibitor or a calcium channel blocker instead of the beta blockers. All these options will allow the aorta to function properly without insane pressure.

Treatment for Bones and Joints

If you have scoliosis, the doctor should recommend something to prevent this from getting worse, like a brace. However, if your case of scoliosis is advanced, the only option would be surgery. In some cases, patients might require corrective surgery to repair a chest that has stuck out or sunk in. This is important so that your chest does not press on your heart or lungs.

You should never self-diagnose Marfan syndrome. This disorder shares similar symptoms with a lot of collagen disorders. Therefore, you might end up diagnosing the wrong condition and taking medicine for something that you do not have.

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