Marfan’s Syndrome: A Guide to Physical Characteristics, Risks and Complications
MArfan’s Syndrome affects the connective tissues of the body. A patient suffering from Marfan’s Syndrome will present as a very tall and slender individual with physical abnormalities including long narrow face, arched mouth with crowding of the teeth, scoliosis or curvature of the spine, disfigured breastbone, flat feet and will be loose jointed and appear to be disproportionately long in relation to the rest of the torso. A patient with Marfan’s may be near-sighted, suffer from early development of cataracts and will need to be monitored for retinal detachment as 50% of all Marfan’s patients will suffer some dislocation of at least one eye lense.
Because the heart and central nervous system are comprised of connective tissue, individuals impacted by Marfan’s Syndrome will require close monitoring by a cardiologist and neurologist. In terms of cardiac complications, the heart valve and chambers will appear floppy and defective and may leak resulting in fatigue, shortness of breath and development of a heart murmur. In rare cases, aortic dialation may occur resulting in sudden death. As a result, it is highly recommended that Marfan’s patients wear a medical alert bracelet and may be prescribed beta blockers to ensure consistent blood pressure flow. On rare occasions, surgery to repair the valves may be required.
In addition to cardiac conditions, the Marfan’s patient will also suffer from central nervous complications. The spinal fluid surrounding our brains and spinal columns is protected by a connective tissue layer called the dura. As Marfan’s progresses, the dura becomes compromised and may rupture resulting in leakage of the spinal fluid. This is rare. In most cases, the dura may only stretch to such a degree that the weight of the dura begins to impact the lower back and pelvis area of the patient causing great levels of pain. Under these conditions, a neurologist will prescribe pain medications.
Marfan’s Syndrome also impacts the respiratory system with 70 percent of Marfan’s patients suffering from restrictive lung disease. As a result, Marfan’s patients are not permitted to smoke, must be monitored for sleep apnea, chest pain and emphaseyma.
There is no cure for Marfan’s Syndrome however the gene has been identified. To make a positive diagnosis, the patient must have a family history of Marfan’s plus two or more characteristics of the disorder. In patients without family history, three characteristics of the disorder are required for diagnosis. With no cure, treatment will include monitoring of health complications by a team of physicians including cardiologist, orthopedist, opthamologist, neurologist and a medical geneticists.
When encountered with a patient suffering from Marfan’s Syndrome, remember the physical characteristics of the condition are not the full extent of the disorder. Underlying the obvious disfigurements lies a realm of complications and disorders that can arise from difficulties with the connective tissues which is the root of the disease.
