Marfan syndrome is a lifelong disorder that affects the body’s connective tissue, which provides strength and flexibility to structures such as blood vessels, bones, and joints. Although this genetic condition can’t be prevented or cured, it’s important for those with Marfan syndrome to understand the causes of the disorder and what they need to do in order to thrive. In this blog post, we’ll explore what Marfan syndrome is all about along with its possible causes, symptoms, and treatment options available. Additionally, we’ll also answer some common questions around how individuals living with Marfan Syndrome can best manage their health while still leading an active lifestyle.
What is Marfan Syndrome?
Marfan syndrome is a genetic disorder that affects the connective tissues. The connective tissues are abundant throughout the body and they perform various vital bodily functions. They help support bodily tissue and also offer joint protection. The connective tissues also act as an adhesive that holds other tissues together and assists with cell growth and development. They also help light pass through the eyes for proper vision.
The connective tissue is comprised of protein. A patient with Marfan syndrome has a defective FBN1 gene that affects the formation of a protein called fibrillin, which the body requires to make the connective tissues strong. The disorder hinders many different bodily systems, including the skin, eyes, skeletal system and blood vessels.
Some symptoms of Marfan syndrome can be life-threatening. For example, it can cause damage to the aorta, the blood vessel that carries blood away from the heart to the rest of the body. It can cause the aorta to expand or even rupture, triggering a dissection that causes bleeding in the wall of the blood vessel. Aortic dissection and aortic enlargement can be deadly conditions.
According to the Marfan Foundation, most cases of this condition are inherited and it only occurs in about one in 5,000 people. The disorder occurs in both men and women and across people of different ages and races.
Symptoms of Marfan Syndrome
Patients with the syndrome show diverse symptoms. They may manifest in the eyes, skin, skeletal system or cardiovascular system. The symptoms can range from mild to severe, but some of them are not physical. The condition affects patients differently and no two patients’ symptoms are the same.
These symptoms are the most noticeable to the eye and they may be the first symptom to draw attention to the condition. The connective tissues are very stretchy and loose and the bones grow extra long. The patient may have a tall, thin build with long and narrow shoulders. The breast bone may grow inward or it may protrude and the fingers, arms and legs may be disproportionately long. They may also have a curve in the spine, a condition called scoliosis. The patient may have flat feet, deep set eyes, a small bottom jaw and crowded teeth with an arched palate.
Marfan syndrome can also cause misalignment in the bones, resulting in joint contraction and muscle, bone and joint pain. If one bone in the spine slips over another, it is called spondylolisthesis. Dural ectasia is when the membrane lining the brain and spinal cord weakens, which causes back pain.
Marfan syndrome can also affect the eyes. However, the symptoms also affect people without the condition, so ophthalmologists do not always suspect that vision problems may result from Marfan syndrome. For example, the ocular lenses may dislocate. This is the transparent part of the eye that helps to focus light rays on the retina. The retina itself can also detach, pulling away from its source of nutrients and oxygen. It may cause nearsightedness or myopia, which is when the patient cannot clearly see objects that are far away. The patient may have different shaped eyes, strabismus, cataracts or glaucoma, which can lead to permanent vision loss without treatment.
About 90 percent of patients with Marfan syndrome develop changes in the cardiovascular system, which includes the heart and blood vessels. The symptoms can be especially serious if it affects the heart valves and the aorta. The aorta is the main artery that runs from the heart through the middle of the chest and down to the abdomen. It carries blood from the heart throughout the body. Marfan syndrome weakens and dilates the blood vessel walls, which can block the aorta. When the wall of the aorta dilates or weakens, it can lead to:
- Aortic aneurysm – a condition that causes the aorta to enlarge or dilate
- Heart murmur or heart palpitations
- Aortic dissection – a rupture in the aorta
- Aortic regurgitation – leaking in the aortic valve, causing an enlarged left ventricle
- Shortness of breath
Marfan syndrome can also affect the heart valves, particularly the mitral valve. Mitral valve prolapse (MVP) occurs when the valve weakens and doesn’t close properly. Then it allows blood to leak back through the valve.
Stretch marks are very common, especially in young adults that grow very fast during adolescence, during pregnancy or with changes in weight. However, they are also common in patients with Marfan syndrome. They usually appear at a young age and are not usually a result of weight changes. If the patient’s skin loses elasticity and there are no changes in weight, it can cause stretch marks. They usually appear on the hips, shoulders or lower back.
Marfan syndrome often causes complications with the lungs. Common lung conditions among Marfan syndrome patients include asthma and emphysema. It may also cause the lungs to collapse or detach from the chest (spontaneous pneumothorax) or the lungs may not expand fully, making it difficult to get oxygen (restrictive lung disease). Patients may also have sleep apnea if the connective tissues in the airways are too loose and restrict airflow during sleep.
Causes of Marfan Syndrome
Marfan syndrome is a genetic disorder. It results from a defect in the FBN1 gene, which determines how the body makes a protein called Fibrillin-1. This protein is a major component in the connective tissues that gives them strength and elasticity. Most patients with Marfan syndrome inherit the condition. It is an autosomal dominant condition, which means that a patient with the condition has a 50 percent chance of transferring the FBN1 gene to their offspring.
Research shows that 25 percent of Marfan syndrome cases occur spontaneously at the period of conception. That is, the FBN1 gene can mutate for the first time in the parent’s sperm or egg and then the mutated gene transfers to the offspring.
The gene defect results in abnormal fibrillin production, which causes the connective tissues to stretch abnormally under stress. Without proper elasticity and strength in the connective tissues, it can be difficult to move and flex the muscles and joints. Also, the connective tissue struggles to support the body’s organs. Then the abnormal gene stops producing Fibrillin-1, which causes a spike in the protein cytokine, causing scarring and inflammation.
Marfan syndrome is a variable expression genetic disorder because the abnormal gene expresses itself differently among patients. So even though the patient may have the same defective gene, each patient will have different characteristics.
There is some evidence to suggest that certain environmental factors may contribute to the development of Marfan Syndrome. For example, research has shown that exposure to certain chemicals and toxins during pregnancy may increase the risk of a child developing the condition. Additionally, some studies have suggested that poor nutrition and inadequate prenatal care may also play a role in the development of the syndrome.
How is Marfan Syndrome Diagnosed?
While no single test can confirm the presence of Marfan Syndrome, there are criteria that help doctors make a diagnosis. According to the recently updated Ghent nosology, the following criteria are considered when diagnosing Marfan Syndrome:
- Aortic root dilation or dissection
- Ectopia lentis (lens dislocation)
- A family history of Marfan Syndrome
- FBN1 mutation and aortic root dilation
- FBN1 mutation and ectopia lentis
In addition to these criteria, other physical features such as a tall and slender physique, flexible joints, and a high-arched palate may also be considered when making a diagnosis.
Genetic testing is not typically a first-line diagnostic tool for Marfan Syndrome, but it can help confirm a previous diagnosis or identify the disease in a family member. DNA extracted from blood or saliva can be analyzed to look for mutations in the FBN1 gene. Finding a mutation in the FBN1 gene confirms the diagnosis of Marfan Syndrome in an affected individual.
Marfan Syndrome Blood Test
Marfan Syndrome blood test is a genetic test that looks for mutations in the fibrillin-1 gene, responsible for the production of the FBN1 protein, which is integral to the structure of connective tissues. This test can confirm a diagnosis for Marfan Syndrome or related conditions like Loeys-Dietz Syndrome and Ehlers-Danlos Syndrome.
How is Marfan Syndrome Treated?
There is currently no cure for Marfan syndrome. The treatment options focus on managing the symptoms and taking steps to reduce the risk of complications. Because the syndrome impacts different parts of the body, treatment programs usually involve a multidisciplinary medical team including a cardiologist, orthopedist, ophthalmologist, geneticist and a cardiothoracic surgeon. Then the physicians formulate an individualized treatment program.
Skeletal malfunctions can cause disfiguration or even heart and lung damage. Patients will require regular check ups with a doctor to detect changes in the sternum or spine, especially during periods of rapid growth during adolescence. Treatment for abnormal skeletal features depends on what part of the body the condition affects.
Patients with loose joints can use joint support, exercise, proactive posture and non-steroidal anti-inflammatory drugs to treat pain (NSAIDS). Orthotics and arch supports can help reduce muscle cramps and leg fatigue in patients with flat feet. Scoliosis treatment depends on how severe the spine curves. If the curve is mild, the patient may need a back brace. But if the curve is larger than 40 degrees, physicians may recommend surgery to straighten it. If the patient has a concave or convex breast bone, they may need surgery to correct it.
Patients with Marfan syndrome have a compromised aorta, which increases the risk of heart problems. The patient may require regular check ups with a cardiologist, as well as regular echocardiograms to monitor the heart and aorta’s structure, thickness and function.
Beta-blockers reduce stress on the aorta and keep it from dilating. It is usually a treatment for high blood pressure, but most patients with Marfan syndrome have low blood pressure, so the beta-blockers helps keep the aorta from expanding too quickly. Research states that it may delay the need for aortic surgery, but it does not necessarily prevent it. However, there are some cases in which the patient will require surgery. If the aorta increases too rapidly, it increases the risk of a rupture or tear. Surgery may help reduce the risk of developing life-threatening complications.
A patient with Marfan syndrome will have to have regular checkups with an ophthalmologist to assess vision and eye health. Most of the time, a physician recommends glasses to correct vision. But in other cases, the patient may need further treatment. For example, dislocation can impact vision and even cause glaucoma, which results from damage to the optic nerve. The patient may require surgery to replace the filmy lens with an artificial one. Other treatment options for glaucoma include laser treatment and medicated eye drops.
Living with Marfan Syndrome
After understanding the condition, one should use the resources available to seek support to help manage their condition. Seek online or in-person support groups for Marfan Syndrome, where you can connect with others dealing with the same condition and share experiences. Support groups also provide practical resources and information about the latest treatment options, research, and innovations.
Taking care of oneself through diet and exercise is important when dealing with Marfan Syndrome. This condition puts considerable strain on the heart and other organs, as well as causing joint pain and dislocations. It is important to maintain a healthy body weight to avoid putting undue pressure on your body’s joints and organs.
Since people with Marfan Syndrome are at an increased risk of aortic aneurysms, strenuous exercise should be avoided, especially weight lifting. Instead, focus on low-impact exercises such as swimming and walking, which can help improve cardiovascular function and muscular health.
Living with Marfan Syndrome can be emotionally challenging, leading to feelings of anxiety and depression. It is essential to manage one’s mental health as well as physical well-being. Seek support from family and friends, or join a mental health support group. Hard times must be communicated to healthcare providers or counselors.
Marfan Syndrome and Pectus Excavatum
Marfan Syndrome is a genetic disorder that affects the connective tissue present in our body, which could lead to a wide range of symptoms affecting several organs. Pectus Excavatum, also called sunken or funnel chest, is a chest wall abnormality that makes the breastbone sink or cave inwards. Both conditions are rare, but they could occur together.
Both conditions are genetic disorders. Marfan Syndrome is caused by mutations in the gene that controls the production of fibrillin, a protein that is critical for the formation of elastic fibers in connective tissue. Pectus Excavatum may either be an inherited or spontaneous trait, and it occurs more frequently in males than females. There is no specific gene identified as the cause of this condition.
There is no cure for Marfan Syndrome, but treatments are available to help manage symptoms. Treatment options include medication to control blood pressure, heart rate, and prevent complications. Besides, surgery may be required to correct heart valve defects or aneurysms that could develop in the aorta. Pectus Excavatum can be corrected through surgery, such as the Nuss procedure, which involves placing a curved metal bar under the sternum to push it outwards and reconstruct the chest’s shape.
Supplements for Marfan Syndrome
There is no specific cure for Marfan Syndrome. However, there are natural remedies available that may help some of the symptoms in combination with other medical treatments. Since the condition affects many different systems in the body, there are a wide range of supplement options. Consult a physician before starting a supplement regimen.
Potassium is a key mineral that helps combat the effects of sodium in the body and lower blood pressure. The higher a patient’s potassium intake, the more sodium the body expels in urine. The kidneys help control blood pressure by balancing potassium and sodium to absorb extra fluid in the bloodstream, storing it in the bladder as urine. The recommended dosage for potassium citrate is 275 mg daily after consulting a doctor.
One herb that has shown great promise is Lycopene. This powerful antioxidant has been found to improve the health of the heart and connective tissue. It works by inhibiting the activity of enzymes that damage the tissues that make up the aorta and other blood vessels within the body. One study found that Lycopene was able to reduce symptoms of aortic root dilation in people with Marfan Syndrome.
Beetroot has a long history of treating blood-related ailments. After completing a placebo-controlled trial investigating the effects of beetroot on blood pressure, medical researchers concluded that a daily glass of beetroot juice might help reduce blood pressure. The Journal of Nutrition published a meta-analysis of 16 trials in 2013 that linked beetroot and nitrate supplementation to a reduction in systolic blood pressure. As a dietary supplement, take 3,500 to 7,000 mg of beetroot powder daily, unless a doctor recommends a different dosage.
Calcium is the most abundant mineral in the human body and it is also present in various living and nonliving beings. It is present in the bones and teeth, providing strength and structure. Insufficient calcium intake is important to keep the teeth and joints strong. However, the human body cannot make calcium itself. Since Marfan syndrome affects the skeletal system, patients can try calcium supplements to maintain strong bones as they receive other medical treatment. The recommended dosage for calcium citrate is 2,380 mg once a twice a day. Consult a physician before taking this supplement.
Vitamin A has antioxidant properties that help support the immune system. It reduces oxidative stress in the body and helps prevent disease. Vitamin A is a common ingredient in cosmetic products because it helps maintain skin elasticity. It also combats other skin conditions including acne, psoriasis and keratosis pilaris. Vitamin A also supports vision and eye health, as well as bone development. It is also available as a supplement. The recommended dosage for Vitamin A palmitate is 350 mg a day, with a physician’s approval.
Vitamin E is another supplement that can be useful for people with Marfan Syndrome. Studies have found that vitamin E can reduce aortic enlargement in people with Marfan, which is one of the most dangerous symptoms associated with the disorder. Vitamin E works by reducing oxidative stress within the body, which can help protect the delicate tissues of the aorta and other blood vessels.
It has been found that Vitamin C reduces inflammation and improve connective tissue health. This can help reduce joint pain and stiffness in people with Marfan Syndrome, as well as reducing the risk of aortic aneurysm and other complications. The Vitamin C supports the production of collagen, a protein that provides strength and support to connective tissue in the body.
Another supplement that can be useful for people with Marfan Syndrome is Selenium. This mineral plays a beneficial role in the regulation of the thyroid gland, which is often in people with Marfan Syndrome. Studies have found that supplementing with selenium can help reduce symptoms of thyroid dysfunction, including fatigue, weight gain, and depression. It’s important to note, however, that too much selenium can be harmful, so it’s important to speak to your doctor before beginning a supplement regimen. You may be able to take one in a multi-vitamin supplement.
The Bottom Line
There is no cure for Marfan Syndrome, but treatment can help manage its symptoms and prevent complications. Treatment options include regular checkups, medication, and surgery. Medication is often used to reduce blood pressure and prevent the development of aortic aneurysms. Surgery may be required if the aortic aneurysm begins to enlarge and becomes at risk of rupturing.
Living with Marfan Syndrome: People with Marfan Syndrome can live long, healthy lives with proper monitoring and treatment. Regular checkups with a genetic counselor and a healthcare provider familiar with the condition can help people with Marfan Syndrome manage their symptoms and prevent complications. Support groups and online communities can also provide patients and their families with information and support.
Marfan Syndrome is a rare genetic disorder that affects the body’s connective tissues, resulting in a variety of symptoms and serious health complications. Understanding Marfan Syndrome is crucial, as early diagnosis and treatment can improve outcomes and prevent serious complications. We hope this blog post has provided you with valuable information about this rare but serious genetic condition. If you or someone you know may be affected by Marfan Syndrome, we encourage you to speak with a healthcare provider or genetic counselor.
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