Marfan syndrome is a genetic disorder that affects the body’s connective tissues (Nordqvist. C, 2017). Example of connective tissues are bones, ligaments, muscles, blood vessels, and heart valves (Genetics Home Reference, 2012). The symptoms of Marfan syndrome can vary greatly, from mild to severe, it also worsens with age. Marfan syndrome mostly commonly affects the heart, eyes, blood vessels, and skeleton. This condition gives rise to many complications which can become life threatening (Mayo Clinic, 2017). Some obvious features of those who suffer from Marfan Syndrome include a tall and slender build; disproportionately long arms, legs, and fingers; a breastbone that protrudes outwards or dips inward; a high, arched palate and crowded teeth; heart murmurs; extreme nearsightedness; an abnormally curved spine; and flat feet (Mayo Clinic, 2017).
Marfan syndrome occurs in approximately one in five thousand individuals worldwide (Genetics Home Reference, 2012). About three in four people with Marfan syndrome inherited the autosomal dominant mutation from a parent who has it. In other cases, spontaneous mutations occur, giving rise to the mutant gene. There is a 50 percent chance that a child would inherit the mutant gene from a parent who has the gene (The Marfan Foundation, 2014).
Marfan syndrome is caused by a genetic mutation in the FBN1 gene. The mutation inhibits the body from producing fibrillin-1; a protein that gives connective tissues its resiliency and strength (Mayo Clinic, 2017). Fibrillin-1 binds to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. These microfibrils give strength and dexterity to connective tissue in our body. Moreover, microfibrils store molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN1 gene can decrease the amount of functional fibrillin-1 that is available to form microfibrils. As a result, excess growth factors are released, thus decreasing resiliency in many tissues and leads to overgrowth and instability of tissues (Genetic Home Reference, 2012). This genetic mutation affect functions in the bones and joints in our body, and is most often the first symptom that indicates Marfan syndrome.
Skeletal features when bones and joints grow extra-long or ligament become stretchy. Since Marfan syndrome affects connective tissues which holds joints together, patients’ ligaments will become like a loose rubber band (The Marfan Foundation, 2014). Although many people with Marfan syndrome have more than one skeletal feature, only a few people have them all, which is only about one-third of people with Marfan syndrome have skeletal features so severe that they need to see an orthopedic doctor (The Marfan Foundation, 2014). When bones grow extra-long, chest may sink in (pectus excavatum) or stick out (pectus carinatum or pigeon breast). This happens when ribs grow too long. And teeth may be crooked and crowded because the roof of mouth(palate) is high and arched (The Marfan Foundation, 2014). When ligaments are stretchy and loose, spine may curve to the side(scoliosis) or forward(kyphosis). And knees, hips, shoulders, or other joints may slip out of place(dislocate) (The Marfan Foundation, 2014).
Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Foot pain and low back pain are common with Marfan syndrome (Keer. R, 2016)
If I know someone with Marfan Syndrome, I would suggest them to do a bone and joint surgery. Although Marfan syndrome has no cure, treatment can help delay and prevent complication, so I would suggest them to do bone and joint treatment because it can repair a chest that sinks in or sticks out, it can prevent the chest from pressing on the lungs and heart (Medline Plus, 2017). Moreover, regular monitoring can help to prevent bone, joint, and tissue problems by recognizing any changes in the spine or sternum at an early stage. This can be especially helpful if the person with Marfan syndrome is a child and still growing (Nordqvist. C, 2017).