What holds our bodies together? Apart from our bones and muscles we have connective tissue that supports the organs, holds the bodies’ cells and give structure to the body; playing an important role in our development. This elastic fibrous tissue can also get sick and defective, some people might suffer from a disease known as Marfan Syndrome which is a very unique ‘’genetic hereditary disorder that affects the fibers of the connective tissue of the body.’’
Different proteins compose the structure and different layers of the connective tissue; specifically the protein fibrillin-1 has to do with providing structural support in elastic and non-elastic connective tissues throughout the body therefore any change in the quantity of this protein will have its effect on the body along with the different organ systems. The etiology of this syndrome mainly occurs because of a mutation and/or defect in the gene that tells the body to produce more fibrillin-1.Men, women, and any ethnic group can have it. It is most likely to inherit the syndrome from a parent. Surprisingly, the genetic mutation can even occur with no family history present; when this occurs it is referred as a spontaneous mutation.
According to The Marfan Foundation, about 1 in 5,000 people have Marfan Syndrome and its a 50% chance that it will pass along each time the patient has a child. People affected by this syndrome are born with it, but the features and complications do not present right away. It is usually a progressive disease but it affects differently in every patient. Some develop complications at birth, as small children or even adults. Every patient experiences the signs and symptoms differently, but one very common sign is very tall and thin people with very long arms, legs, and fingers in a disproportionately matter. Clinical manifestations include flat feet, flexible joints, pectus excavatum (breast bone sunken in) or pectus carinatum (protrusion of sternum), scoliosis, and kyphosis, high arched palate crowded teeth, heart murmurs, and extreme myopia (nearsightedness) can be present in this type of patient. Serious complications and disorders can occur in the pathophysiology of the disease that will affect the cardiovascular system, skeletal system, skin, eyes, and respiratory system. The most dangerous complication is when the blood vessels and the heart are involved, especially the aorta; large artery from the heart that supplies the body with oxygenated blood. ‘’Heart and blood vessels problems affect 9 out of every 10 people diagnosed with Marfan Syndrome.’’
The consequences of this is that weak connective tissue leads to a defective aorta giving opportunity to different cardiovascular complications like for example; aortic aneurysm, aortic dissection and valve malformation. Pulmonary complications are present as well and the risk is so high that everyone diagnosed with the disease should avoid to smoke at any cost. Respiratory dysfunctions include spontaneous pneumothorax, restrictive lung disease, emphysema, asthma, and sleep apnea. In the Marfan lung, a spontaneous pneumothorax can be recurrent and present in both lungs this is because the connective tissue around the lungs is weak and any excessive pressure can cause harm. Restrictive lung disease is a result of muscle weakness or anatomy deformities that does not allow complete inhalation making it difficult to receive the appropriate amount of oxygen the body needs. The elastic properties of the lung are very important for the ventilation phase since it is the main component in determining inspiratory muscle effort required to breath. ‘’About 70% of people with Marfan Syndrome will have a restrictive respiratory profile creating and modifying respiratory mechanics.’’
Characterized by bronchoconstriction in the bronchioles, asthma can also occur and it is very important for a correct diagnosis because drugs used to treat asthma (beta-agonists) can interfere on the effects of beta-blockers, which are used as treatment to control aortic growth in people with Marfan Syndrome. Another respiratory complication is sleep apnea; even though it is more common in overweight patients, thin individuals who suffer from Marfan Syndrome can also suffer from this disorder. There can be a few causes but the main is that the connective tissue of the airways so loose that while sleeping tends to relax more and it can cause an obstruction.
To be properly diagnosed certain symptoms and family history must be present. It is essential for an early accurate diagnosis to properly treat and manage the disease since it tends to worsen with age and the way it manifests in patients can vary widely with the signs and symptoms their relatives suffered. Genetic testing can be very helpful in establishing any risk of the incidence in patients; it also serves as a guideline when a physical exam with a doctor is not quite clear. There are also a number of tests to be done to see the severity of the disease and establish what system of the body is most affecting. One of the first tests will be an echocardiogram; which uses sound waves and real-time images of the heart. It is also useful to check condition and size of the aorta and heart valves.
Another heart related test would be an electrocardiogram which checks the heart rate and heart rhythm. An eye examination should also be done since the connective tissues in the eyes will be out of place causing eye problems. ‘’More than half the people who suffer from Marfan Syndrome will have a lens dislocation; this is characterized by the focusing lens in the eye moving out of place because its supporting structure has weakened. There is no cure and the connective tissues that got broken will not heal or reattach. This can bring the consequence of a blurry vision which can be corrected with glasses.’’
To properly treat Marfan Syndrome the main step is to identify which body system is affecting the most. Since the incidence in cardiac issues is so high treatment usually involves medications to keep blood pressure low to reduce the stress on the aorta. Regular monitoring is recommended to check any structural changes in the organs especially the heart. There is no definite cure, treatment focuses on living a long full life with the proper management and teaching the patient in identifying progression of the symptoms. As a last resort, surgical intervention is recommended to repair any deformity. ‘’There has been huge improvements in surgical interventions and pharmacological treatments developed in the last 15-20 years as a ‘’preventative’’ measure to reduce the mortality in Marfan patients. In the past, life expectancy was no more than 40 years old but because of the technology now available the average is 65-75 years old.‘’
Surgical interventions include aortic repair, breastbone corrections, and eye surgeries. As a therapy option patient can wear contacts or glasses for their blurry vision or extreme nearsightedness. There is also a scoliosis treatment for children, it consists of wearing a custom made back brace which should be worn until growth is complete. Patient might need to make changes in life like avoiding any recreational or daily activity that might raise blood pressure and increases the risk for aortic dissection. A support group of people who suffer from the same disease is always healthy since patient feels identified and does not get depressed.
A study focused on assessing the elastic mechanical properties of the respiratory system in Marfan Syndrome used mice as a model mimicking aspects of the syndrome in humans. The experiment revealed and found that Marfan mice exhibited an emphysema pattern with large alveolar interseptal distances as they aged through adulthood. It demonstrated that lung impairment is an early symptom on the genetic disease. Future research should concentrate on alveolar structure and determine if the disease process emphysema actually develops or if the alveoli rupture because of the constant stretching of the already weak connective tissue.