Marfan Syndrome was first described in 1896 by French physician Antoine Bernard-Jean Marfan. The syndrome is an autosomal dominant disease, which is a certain pattern of inheritance that is characteristic of some genetic diseases (read more on the genetics of Marfan Syndrome on my other blog post). A syndrome is a collection of physical features which, when they occur together, enable a physician to recognize a certain condition. Symptoms vary greatly from person to person and may affect many different physical areas of the body:
Skeletal:
- Tall, thin physique with disproportionately long limbs (armspan usually greater than height), fingers, and toes
- Lax ankles (loose ankle ligaments) and flat feet
- Scoliosis (spinal curve)
- Narrow chest, with either a cave or a pigeon (protruding) deformity
- Joint hypermobility
- Common hernias (a sac formed by the lining of the abdominal cavity)
- Ballooning/widening of the dural sac (the membranous sac that encases the spinal cord within the bony structure of the vertebral column)
- Dilation of the ascending and sometimes descending aorta
- Leak of aortic or mitral valves
- Aneurysm and dissection of aorta
- Collapse of the lungs (pneumothorax)
- Bronchiectasis
- Emphysema and asthma
Ocular:
- Dislocation of lens
- Myopia (nearsightedness)
- Unstable refraction of light in eye
- Retina detachment
- Glaucoma (damage to eye nerves over time)
- high arched palate
- crowded teeth
- narrow jaw
Although people with Marfan Syndrome often have these similar physical features, some will have very mild symptoms, while others have severe ones—even within the same family. This variable expression makes it difficult to predict how the disease will progress in any affected individual once diagnosed. These individuals are usually tested at a young age if their parents are known to have the syndrome. However, by the unlikely chance that a person develops the disease through spontaneous mutation, they will most likely be tested whenever symptoms become noticeable, which can range from the age of a young child to a young adult. To be properly diagnosed, they will have to visit multiple doctors specializing in different areas.
A geneticist may ask whether any family members have the syndrome and take blood tests to check for the gene that causes Marfan Syndrome. A cardiologist (a doctor who specializes in the heart and blood vessels—the cardiovascular system) may listen to the heart for murmur, order x-rays of the chest, take an electrocardiogram (also known as EKG, which measures electrical impulses in the heart) and an echocardiogram (a test that uses sound waves to produce a picture of the heart) to check the size of the aorta and to make sure the valves are functioning well. An orthopedist (a doctor who specializes in corrections of the skeletal system) may check for curvatures of the spine and breastbone, joint problems, and any other bone abnormalities. An ophthalmologist (doctor specializing in the eyes) may dilate the pupil with special drops, then use a slit lamp to detect lens dislocation and other eye problems.
Once diagnosed, patients with Marfan Syndrome will have to undergo treatment. Although there is no cure, doctors can successfully treat just about all of the symptoms. Medications such as beta blockers (read more about these here) and ACE inhibitors (read more about these here) are usually prescribed. These medications work to reduce blood pressure and wear and tear on the blood vessels, delaying the process of aortic dilation. For those with milder symptoms, glasses or contact lenses may be prescribed to treat nearsightedness, and a back brace may be required if scoliosis develops. However, in cases where these symptoms progress, surgery is needed. Possible surgeries include procedures to repair or replace the damaged parts of the heart if the aorta widens too much or if there is valve leakage, if the lens of the eye becomes extremely dislocated, or if scoliosis and chest wall problems become severe enough.
Life is not the same for all who have Marfan syndrome. Many lead relatively normal lives that only require regular checkups, while others may need constant medical care. However, there are general limitations, such as eye, heart, and joint problems. People with Marfan Syndrome must also avoid putting extra stress on the heart, as well as activities that risk cardiovascular exhaustion, muscle strain, and impact to the chest.
After this beginning and basic exploration, I felt much more informed on Marfan Syndrome, and much readier to tackle further in-depth research.
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