What is Marfan Syndrome?
Marfan syndrome isn’t very common. In fact, it affects fewer than 200,000 people per year. Although not everyone who has a parent with Marfan syndrome will get it, the condition is passed down genetically, so it’s common to see multiple people within a single family who have it.
Marfan syndrome is a condition that affects the connective tissues, and people with Marfan syndrome are also distinctive in that they tend to be tall and thin, with long legs, arms, and fingers. While not everyone with a lanky appearance has Marfan syndrome, people with this condition tend to have narrow frames.
While people are born with Marfan syndrome, symptoms aren’t always present at birth or even early childhood. Otherwise, if the symptoms are present, they might be subtle enough that they would be easily overlooked. The severity of the condition can worsen with age, and the condition will usually be chronic, lasting throughout a person’s lifetime.
The expressions of Marfan syndrome can also vary from person to person. For instance, one person with Marfan syndrome might have more problems with their heart while another person with the condition might not have heart problems but have severe problems with their sight, instead.
Because Marfan syndrome is a genetic disorder, there are ways to definitively determine whether or not a person has Marfan syndrome. Getting a medical diagnosis will also be necessary to definitively determine whether or not a person has Marfan syndrome because it’s possible to have some of the symptoms of Marfan syndrome but have them originate with another condition.
Symptoms of Marfan Syndrome
The exact expression of Marfan syndrome can vary from person to person even with patients who are from the same family. Although the expression of Marfan syndrome can vary, there are certain symptoms that tend to be expressed in many people with the condition. For instance, some people with Marfan syndrome will have many sight problems, including near-sightedness.
But poor vision isn’t the only symptom involving the eyes that some people will notice. For instance, detached retinas, dislocated lenses, early glaucoma, and early cataracts are also common symptoms that some people with Marfan syndrome experience, and many people with the condition will also have small pupils.
Heart problems, such as an enlarged aorta, are also common for people with Marfan syndrome, or some might have a heart murmur. People with this condition are also more likely to have a lung suddenly collapse.
There are several symptoms that are very common for people with this condition, including an elongated body. A chest that caves in or sticks out, a curved spine, and flexible joints are also common. Plus, some people with Marfan syndrome will also have flat feet, crowded teeth and a raised roof of the mouth, and stretch marks that aren’t related to weight gain.
Along with long fingers, arms, legs, and toes, people with Marfan syndrome are also likely to be double jointed in several places, including the elbows and knees.
Treatments for Marfan Syndrome
There isn’t a cure for Marfan syndrome even if parents and doctors notice the condition when the person is still a child. Instead, doctors must treat the symptoms of Marfan syndrome. For instance, to treat nearsightedness that often goes along with Marfan syndrome, the patient will usually wear corrective glasses or contact lenses.
Since scoliosis is common for people with Marfan syndrome, they might also be given a corrective brace to help keep their spine straight. This brace will also be used to support and stabilize a weak back.
There are also several types of surgeries that doctors might perform on a patient to help with eye and heart problems. For instance, people with heart problems might eventually need a heart valve repair, vascular grafting, or an endovascular aneurism repair.
Some people with eye problems might also need to have a vitrectomy, which involves removing the vitreous humor and replacing it with another solution. This procedure can be used to fix problems with the retina.
Since some people with Marfan syndrome have problems with their heart and blood pressure, taking a beta blocker is a common way to reduce blood pressure. And when beta blockers are taken in an eye drop form, they can reduce pressure on the eyes. Another type of medication that some people with Marfan syndrome take is an antihypertensive drug, which is also used to reduce blood pressure.
