Marfan Syndrome: 6 Ways It Affects the Skin, Bones and Eyes

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Marfan syndrome affects many people all around the world. This condition primarily affects the connective tissue that joins parts of your body together. Weakening of the connective tissue causes lots of different problems in various parts of the body. Antoine Marfan, a French doctor, first diagnosed this condition at the end of the 19th century; therefore, the name Marfan syndrome was introduced.

fibrilinThe human body produces a protein called fibrilin in order to keep your connective tissue strong. Marfan syndrome prevents the body from producing enough fibrilin. This tissue is present throughout the body and is responsible for connecting muscles, bones, organs and more. The weakening of this tissue causes a myriad of problems, such as weak joints.

The condition can affect people of all ages, genders and ethnic backgrounds. It may also be genetic, so you are at a higher risk of having this syndrome if it runs in your family. There is no known cure for Marfan syndrome, but fortunately you can manage it with the right medicine and lifestyle. Thanks to recent advances in medicine, most patients are now able to enjoy relatively normal lives and have the same life expectancy as everyone else.

Know the Many Symptoms of Marfan Syndrome

Marfan syndrome can have many different symptoms since it has an impact on so many different areas of the body. From patient to patient, the symptoms of this disease will vary greatly. Below, you will find a list of some of the most common symptoms.

Marfan syndrome

Photo by Mileny ES Colovati / CC BY – modified to cover sensitive areas

1. Weakened or Disfigured Skeletons–Marfan syndrome patients tend to be rather tall and thin, with relatively loose or weak joints. The bones in your body are joined together with connective tissue. When this tissue weakens, joints stretch out and bones pull apart. Marfan syndrome sufferers may also have long faces, dental troubles, protruding or intruding sternums and curvatures of the spine.

2. Eye Problems Are Common–Most Marfan syndrome sufferers have eye problems. The most common issue is dislocation of one or both lenses. The severity of this problem can vary from person to person. In extreme cases, retinas can even become detached and other optic difficulties can arise like glaucoma or cataracts.

3. The Cardiovascular System Can Also Suffer –Marfan syndrome patients commonly suffer from problems related to the heart and blood system. Connective tissue is required to keep your arteries and veins in place and maintain their elasticity.

As this tissue weakens, the arteries stretch out and weaken, as well. Another problem is aortic dilation, where the aorta, the primary artery leading from the heart around the body, weakens.
This issue can lead to aortic dissection, where a tear occurs in the wall of the artery, leading to internal bleeding. This is a fatal problem, and thus a big concern for Marfan sufferers.

4. Nervous System Problems –The nervous system is extremely delicate and joined together by connective tissue. Any minor changes to this tissue can have drastic consequences on the nervous system. Marfan syndrome patients can therefore struggle with a variety of difficulties related to their spine and nerves all around the body.

Dural ectasia is another common problem, where the protective membrane surrounding the nervous system weakens and stretches. The nerves then become exposed and aches and pains can begin to appear.

5. Stretch Marks Around the Body –Another unwanted problem associated with Marfan syndrome is the presence of stretch marks. These marks can appear all around the body at any time, regardless of weight change, pregnancy or any of the usual factors involved in the development of stretch marks. Stretch marks aren’t painful or dangerous, but nobody enjoys having them.

6. The Lungs Can Weaken –Inside the lungs are countless tiny sacs that are responsible for transferring gases, like carbon dioxide and oxygen, in and out of the body. These sacs are fragile and held together by connective tissue.

suffer from aches and painsIf the tissue weakens, patients can be at risk of collapsed lungs and respiratory problems. This isn’t common, but it is a potential threat to Marfan syndrome sufferers. Patients can also struggle with snoring, apnea and sleep-related difficulties.

Don’t panic if you are tall and have nearsightedness. Many people snore, have long faces, or suffer from aches and pains from time to time, and that doesn’t necessarily mean that they are dealing with this syndrome.

Marfan syndrome sufferers will usually have a number of these symptoms all at the same time. If you find yourself struggling with multiple symptoms from the list above, you should immediately seek professional medical help to diagnose any ailment you might have.

Understanding the Cause of Marfan Syndrome

Marfan syndrome is a genetic problem. The main cause of this anomaly is a mutation in the gene that is responsible for the creation of fibrilin-1. This is the protein that helps to develop connective tissue and keep our bodies strong. It is not contagious, so you can’t catch Marfan syndrome. It’s something you are born with, so it runs in families.

Naturally, if there is a history of the problem in your family, then you are at a higher risk. Children of Marfan syndrome sufferers have a one in two chance of getting the disease. If both parents have no history of the syndrome, the child has a one in 10,000 chance of being born with this genetic defect.

You should know that genes can mutate in different ways, with some being more extreme than others. Every Marfan syndrome sufferer has a defective gene, but some will have completely different symptoms.

How Doctors Diagnose Marfan Syndrome

The diagnosis of Marfan syndrome can be quite a complicated affair that may require the presence of multiple types of specialists. Geneticists, cardiologists, ophthalmologist and orthopedists may work simultaneously to identify genetic, heart, eye and bone problems, respectively. Let’s look at what would happen if you visited each of these doctors.

The Geneticist –Firstly, the geneticist will ask about the history of your family. They would want to know if any of your relatives have been dealing with Marfan syndrome, or if they ever suffered from similar symptoms. They may also take some measurements of your body, for example your height and arm span. These readings may help to spot a case of Marfan syndrome better.

The Cardiologist –A cardiologist will do some simple tests as well, like listening to your heart and taking an X-ray of your chest. Electrocardiograms may also be needed or echocardiograms to scan the heart for any abnormalities.

Ophthalmologist –The ophthalmologist will put some drops into your eyes to dilate your pupils and then examine the eyes closely. This would allow them to spot any dislocation or other ocular troubles.

Orthopedist –Finally, the orthopedist would check your bones and posture to identify any disfiguration in the sternum or spinal area. They may also check for joint problems or elongated arms.

The tests involved in the diagnosis are all painless and stress-free. The doctors will simply check the patient’s body to look for the signs of the syndrome.

Patients of Marfan syndrome are born with the condition, but sometimes the symptoms don’t appear until later life. Therefore, it’s always worth the time to get yourself checked as quickly as possible if you notice any of the signs. If your family has a known history of Marfan syndrome, you will want to be extra vigilant of the symptoms, as well as talking to your doctor about how it may affect your life.

What Happens If Marfan Syndrome is Not Treated

Early diagnosis of Marfan syndrome is absolutely vital. There are numerous complications that the patient may have to deal with a case of a late diagnosis.

One of the biggest difficulties that can occur is aortic dilation, which leads to aortic dissection. In this instance, internal bleeding may often be too severe and cause fatalities.

eye lens dislocationOther heart problems can also occur, such as a floppy heart valve that causes the blood to leak backwards through the heart. Leaky heart valves usually enlarge the heart in the long run.

Marfan syndrome may also cause eye lens dislocation, where the lens shifts in the outward or upward direction. Patient may also develop scoliosis, also known as curvature of the spine. Even though the problems might look complicated, you can get rid of all of the symptoms of Marfan syndrome as long as the experts diagnose the condition early on.

Marfan Syndrome Treatments: An Ongoing Process for Patients

Marfan syndrome is genetic and thus needs proper attention, care and early diagnosis. You can easily manage the symptoms and treat them successfully in a variety of ways. Let’s look at some of the most common treatment methods for the various parts of the body affected by Marfan syndrome.

Treatment for Heart and Blood Vessel Problems –Marfan syndrome patients will probably have to go for regular appointments with a cardiologist. The doctor is specialized in the heart and circulatory system, so they will perform some painless tests to check your heart rate and blood flow. You may need some x-rays or echo-cardiogram scans to observe the aorta and other blood vessels.

In order to prevent aortic dilation, your doctor may prescribe you with beta-blockers, along with other forms of medication, like ACE inhibitors or calcium antagonists. These types of medication will help to keep your aorta strong and maintain its shape.

In severe cases, surgery may be required to repair or replace damaged blood vessels, particularly the aorta. This operation will help to keep your safe from internal bleeding and allow you to lead a relatively normal life. The surgeon may also repair defective heart valves or replace them through surgery.

Treatment for Skeleton Problems –Physiotherapists may want to see you regularly to help with any joint discomfort or pain throughout the body. Marfan syndrome sufferers may struggle to perform even simple forms of physical activity, like walking or running. Psychotherapy helps to restore movement and normal body functioning.

In addition, your doctor may treat the curvatures of the spine with back braces. The brace prevents any curvature from worsening and helps to support the spine, making it easier for a patient to walk around. In extreme cases, surgery may be necessary to repair a curvature of the spine.

Your doctor may need to fix the intruding or protruding sternum. Intruding sternums may affect the lungs and heart and cause further complications. Extruding sternums aren’t dangerous, but your surgeon may repair them for cosmetic reasons.

Treatment for Eye Problems –Marfan syndrome patients have to go for regular eye check-ups to identify any signs of symptoms of ocular problems associated with this disease. There are various ways to fix eyes issues, including:

1. Laser eye surgery can repair detached retinas or lenses.

2. Physical surgery can help repair the lenses.

3. Artificial lenses can treat cataracts.

4. Special eye drops or different types of surgery, including lasers successfully treats glaucoma.

5. Glasses or contact lenses can rectify shortsightedness, or myopia.

Lifestyle Changes

Despite the numerous problems associated with this disease, many Marfan syndrome patients are able to live normal lives.

If you suffer from Marfan syndrome, you will need to go for regular check-ups with a variety of doctors to manage your symptoms. However, that doesn’t mean that you cannot enjoy many of the same activities as others do. With some slight precautions in your lifestyle, you can live your life comfortably.

Doctors often advise Marfan syndrome patients to avoid any intense sports, particularly those that involve physical contact. You should not try scuba diving, rock climbing and weightlifting. These activities may cause further weakness to the joints and arteries that have already been stretched or damaged by the syndrome.

You can still enjoy many fantastic sports and activities, like walking and golf.

Alternative Treatments for Marfan Syndrome

Many sufferers of Marfan syndrome struggle to adapt to their disease in the early stages. Here are some simple ways to cope with this disease.

Join a Support Group –Marfan syndrome can be a hard thing to live with, but one of the best things to do is to find similar people like yourself and communicate with them. Various support groups exist for people with Marfan syndrome.

You may join such groups and share your experiences and journey with this syndrome. When you become acquainted with many people like you and learn about their successes with the disease, you will be motivated to rise above all the complications.

therapistFind a Therapist –Apart from joining a support group, you may also seek the help of a counselor or therapist.

When you talk to someone who will listen and provide suggestions to help, you will find yourself relaxed and more able to cope. With a calm, reassured mind, you will have the courage to fight the odds.

In addition, other treatments do exist, including hormone therapy. It’s worth talking to professional care providers and experts about the syndrome to discover all of the options available.

Marfan syndrome affects a lot of people in a variety of different ways. Some people will struggle with countless symptoms all around their bodies, while others will be relatively fortunate and not need to worry about too many physical limitations. Either way, Marfan syndrome is not enjoyable to live with and can be fatal in extreme cases.

Like with any other disease or condition, it’s always best to diagnose the problem early and let expert medical professionals treat your ailments and provide you with care. If you notice any of the uncomfortable symptoms occurring in your body or with your loved ones, be sure to get professional advice in a timely manner.

With patience and care, you can get rid of the symptoms of Marfan syndrome and lead a happy and fulfilling life.

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