Marfan’s Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Marfan’s syndrome is a genetic disorder that affects the body’s connective tissue. While it’s not widely known or commonly heard of, according to The Marfan Foundation it affects 1 in 5,000 people. More often than not it’s inherited, so it’s typically passed down through families. So unless someone in your family is affected, you might not know much about it. To learn more about this condition, this article explores everything there is to know, including the symptoms, causes, diagnosis, and treatment.
1. What is Marfan Syndrome?
As we previously mentioned, Marfan syndrome is a disorder that affects the body’s connective tissue. These connective tissues are super important because not only do they hold all the body’s cells and organs together, but they also help our body grow and develop. The Marfan Foundation explains that our bodies connective tissues are made up of proteins and the protein that Marfan syndrome affects is fibrillin-1. “Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β,” writes the source. “The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related conditions.”
As we all know, connective tissue runs throughout our body which also means that Marfan syndrome can affect different parts of the body. The most common places that the features of this disorder are found in the heart, blood vessels, bones, joints, and eyes. The Marfan Foundation gives some examples of common Marfan features were are aortic enlargement which can be life threatening, but the skin, lungs, and nervous system can be affected as well. What is most definitely not affected is the patients intelligence, says the source.
2. Who Gets It?
We already touched on this in the intro, but Marfan syndrome affects around 1 in 5,000 people and doesn’t discriminate against anyone — it affects men, women, and all races and ethnic groups. Most of the time this genetic disorder is passed down through family genetics which shouldn’t be all that surprising considering it’s a genetic disorder. The Marfan Foundation points out that about 3 in 4 cases of this condition are inherited. There is a small percentage of cases where the patient is the first in their family to get it. When this happens, it’s called spontaneous mutation. “There is a 50-percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child,” writes the source.
3. Symptom: Skeletal System
Marfan syndrome differs for everyone, not only in what symptoms a patient might experience, but also when it comes to the time period of when they show up. For some the symptoms may appear during infancy, others it might be during their childhood, but it can also take as long adulthood. The symptoms will also worsen with age.
Due to the fact that symptoms of Marfan syndrome differs greatly between patients, it’s hard to sum up exactly what one person might experience. For the most part, it will affect their skeletal system in some way or another. This will create visible symptoms in their bones and joints that may appear as, “unusually tall height, long limbs, large, flat feet, loose joints, long, thin fingers, a curved spine, a chest bone (sternum) that sticks out or caves inward,” as well as “crowded teeth (caused by an arch in the roof of the mouth),” writes Healthline.
4. Symptom: Heart and Blood
In addition to the physical symptoms that come from the skeletal system, there are many invisible symptoms. Healthline notes that Marfan syndrome has a serious impact on the heart and blood. For example, “your aorta, the large blood vessel that transports blood from your heart, may become enlarged,” writes the source. “An enlarged aorta may cause no symptoms.” But, it presents a very serious threat of a potential rupture. Anyone who has been diagnosed with Marfan syndrome should seek medical attention right away if they begin to experience chest pain, breathing problems, or an uncontrollable cough.
5. Symptom: Eyes
The last major impact of Marfan syndrome when it comes to symptoms are the eyes. People with this condition tend to suffer eye problems, and according to Healthline, one in six patients with Marfan syndrome will have what’s called “partial lens dislocation” in either one or both of their eyes. It’s also not uncommon for them to experience nearsightedness which requires them to have eyeglasses or lenses to correct their vision problems. “Finally, early-onset cataracts and glaucoma are also much more common in people with Marfan syndrome,m compared to the general population,” says Healthline.
6. What Causes Marfan’s Syndrome?
Since Marfan’s syndrome is a genetic disorder the cause behind this condition is a defect in genes. The Mayo Clinic explains that Marfan syndrome “is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.”
The majority of patients with this condition inherited the abnormal gene from a parent who also has this disorder. When a parent who has Marfan syndrome has a child, that child has a 50-50 chance of also being born with the defective gene, says the Mayo Clinic. “In about 25-percent of the people who have Marfan syndrome, the abnormal gene doesn’t come from either parent.” When this happens, the gene comes from a new mutation that has developed spontaneously. As we previously mentioned, this is referred to by medical professionals as spontaneous mutation.
7. Diagnosing Marfan Syndrome?
The process of diagnosing someone with Marfan syndrome starts with a doctor. They will perform a physical exam and look into the patient’s family history. Even though the condition is genetic, it cannot be diagnosed solely by genetic testing. Patients will have to undergo a full evaluation that takes particular interest in their skeletal system, heart, and eyes.
Healthline lists several exams a person should expect. The first is an echocardiogram. This test will help determine whether the aorta is enlarged, if there are any tears or aneurysms in the walls of the artery. You will also have an electrocardiogram (EKG) to review the heart rate and rhythm. In addition to this, a doctor will do a magnetic resonance imaging (MRI) test, “which is performed in some people to look for lower back problems,” says Healthline. Last but not least, the overall health of their eyes will be checked to “test how acute your sight is, and to screen for cataracts and glaucoma.”
8. Treatment: Medication
Since Marfan syndrome differs so much for each person, the treatment plan needs to be unique and individualized. For some people, they will need to attend regular follow-up appointments throughout their life. These appointments include monitoring cardiovascular health, eye, and routine orthopedic exams. Certain people will need to be treated with medication.
According to WebMD, medication is not typically used to treat Marfan syndrome, but beta-blockers are sometimes prescribed to prevent or slow down any enlargement of the aorta. They can also relieve any pressure within the arteries. If a patient is prescribed this type of medication, it’s often when they are young. People with asthma are unable to take beta-blockers because they can cause drowsiness, weakness, headaches, slowed heartbeat, trouble breathing, sleeping, or swelling of the hands and feet. If this is the case, they are prescribed a different medication called calcium channel blocker.
9. Treatment: Surgery
Surgery is the other option for treatment and is used with the goal of preventing “aortic dissection or rupture and to treat problems affecting the heart’s valves, which control the flow of blood in and out of the heart and between the heart’s chambers,” writes WebMD. The decision of whether or not a patient needs surgery depends on the size of their aorta, the speed in which it is enlarging, as well as their age, gender, height, and family history of aortic dissection. If the surgery is performed, it involves replacing the dilated portion of the aorta with a graft, which is a piece of man-made material. This is done with the intention of replacing the damaged area of the blood vessel.
If the patient is suffering from a leaky aortic or mitral valve then they are at risk of also damaging the left ventricle which controls the lower chamber of the heart that pumps blood into the main chamber or heart failure. “In these cases, surgery to replace or repair the affected valve is necessary. If surgery is performed early, before the valves are damaged, the aortic or mitral valve may be repaired and preserved,” says WebMD. “If the valves are damaged, they may need to be replaced.”
10. How Does It Affect Lifestyle Choices?
For the most part, people living with Marfan syndrome can still live a somewhat active and physical lifestyle, but they are asked to avoid any high intensity sports, contact sports, and isometric exercises (ex. weight lifting), says WebMD. The source also notes that it’s important to consult a cardiologist about any activity beforehand. Another lifestyle impact is family planning and pregnancy. Due to the fact that there’s a 50-percent chance Marfan syndrome can be passed down to a child, couples are encouraged to attend genetic counseling to determine the risk.
Any woman with Marfan syndrome who becomes pregnant is considered high-risk. “If the aorta is normal size, the risk for dissection is lower, but not absent,” writes WebMD. “Those with even slight enlargement are at higher risk and the stress of pregnancy may cause more rapid dilation.” Pregnant women are encouraged to have frequent blood pressure checks and monthly echocardiograms throughout their pregnancy.
Marfan syndrome puts people at risk for bacterial endocarditis, particularly if they’ve had heart or valve involvement or those who’ve had heart surgery. “This is an infection of the heart valves or tissue which occurs when bacteria enters the blood stream,” writes WebMD. “To prevent this, antibiotics may be needed prior to dental or surgical procedures.” Consult your doctor to determine what antibiotics are needed, if at all.
Lastly, due to all of these lifestyle changes and the stress of a medical condition there could be some emotional considerations. WebMD notes that someone who learns they have Marfan syndrome might feel angry, sad, or frightened. It may impact their financial situation and cause people to have to adjust their life. The emotional toll of potentially passing along this condition to future children is also extremely emotionally challenging.
11. What is the Outlook?
Now that we’ve talked about the potential lifestyle changes and how Marfan syndrome is treated, what is the outlook for someone with this condition? WebMD explains that there are certain things that can increase a person’s outlook, for example how early the condition was detected, if they had regular check ups and follow up care, and if they had access to safe surgical techniques.
In the past, the outlook for a patient with Marfan syndrome was meak. The average age was extremely low, sitting around 32. Today, the medical community has made leaps and bounds to improve this number. “With the help of early diagnosis, appropriate management, and long-term follow-up care by an experienced team of health care providers, most people with the disorder live active, healthy lives with a life expectancy similar to that of the general population,” says WebMD.
12. How to Reduce Risk
Again, because this is a genetic disorder, there isn’t much that can be done to reduce the risk of a parent passing this condition along to their child. Healthline advises couples affected by Marfan syndrome who are considering having a child go through genetic counseling before having children. But even outside of these predictable situations, there is also a chance that someone will develop this condition without the warning of any family history due to spontaneous gene defects. The source points out that a quarter of all Marfan syndrome cases are a result of this. While the condition itself cannot be prevented, there are steps that can be taken to lower the risk of pregnancy complications, Healthline suggests that those who do suffer from this disease should seek medication attention and attend regular checkups throughout their pregnancy.
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