Knowing about Marfan syndrome symptoms can help the affected persons cope up with the disorder in a dignified manner.We have already discusses about the causes of Marfan syndrome in a , Marfan syndrome is a genetic disorder that affects the connective tissue.
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The malfunctioning of the FBN1 gene in the affected people impairs the functioning of their vital body parts like the skin, eyes, skeleton, lungs, heart and blood vessels, nervous system, etc.
Incidence of Marfan syndrome
Marfan syndrome is not a gender specific disorder i.e. men and women are equally likely to be affected by it.Further, it has been known to affect people of all ethnicities and racial backgrounds.It is estimated that nearly 1 in every 5,000 people in the US is affected by Marfan syndrome.
Symptoms
As mentioned above, Marfan syndrome affects various parts of the body.Symptoms have been known to vary widely among the members of the same family as well. While some people may only be mildly affected, there might be others who are severely affected. Symptoms usually get more pronounced with age.
Marfan syndrome has been known to affect:
Among all the Marfan syndrome symptoms, the most noticeable is their extremely slender frame and their unusually tall body. All the bones of the body are longer than usual, causing the affected people to have toes and fingers which are unusually longer as compared to the palms of their hands and their feet (a condition called arachnodactyly).
Also, their limbs are disproportionately long as compared to the rest of their body.In some cases, the face is also long and narrow. In extreme cases, the roof of the mouth is also arched, causing the teeth to be crowded.Some affected people have a sunken chest or funnel chest (a condition called pectus excavatum) while there might be others with a pigeon like breast which sticks out (pectus carinatum).
Joints of people affected by Marfan syndrome are usually weak and get dislocated easily.Some people have flat feet as well.
Eyes
Eyes are the second most vital part of the body which is affected by Marfan syndrome.Almost 50% of the affected people suffer from dislocation of lens in one or both eyes (lens subluxation). There might be others who have differently shaped eyes or short sightedness (myopia).
Cataract
Symptoms like blurring of the lens of the eye(s) (cataract), high pressure inside the eye(s) and retinal detachment may also indicate the presence of Marfan syndrome.
Cardiovascular system
People affected by this disorder are likely to suffer from heart problems and those of the blood vessels as well.Since the connective tissue is inherently weak in such people, the aorta (or the artery which is primarily responsible for carrying oxygenated blood from the heart to the rest of the body) usually gets dilated- a condition called aortic dilation. This might further lead to rupturing of the aorta (aortic dissection), which is a serious problem.
Aortic dissection
Marfan syndrome is also capable of bringing about life threatening anomalies in the functioning of the heart by affecting the valves (particularly the mitral valve). If this happens, the valves do not shut as tightly as they should, which causes the blood to flow back from the valves, a condition called the MVP or the Mitral valve Prolapse.
In some patients, the heart enlarges and the functioning of the heart is seriously affected.
In addition to that, other Marfan syndrome symptoms include breathlessness, palpitations, ‘heart murmur’, fatigue, etc.
Lungs
Since the connective tissue of people affected by Marfan syndrome lacks elasticity, the air sacs present in the lungs can get swollen or stretched, making the patient prone to lung collapse. This, however, is a rare occurrence and not something to lose sleep about- especially when there is so much else to worry about!Lung related infections like pneumonia, asthma, bronchitis, emphysema, bronchitis, etc. are more likely to pester people affected by Marfan syndrome.
Such people are more likely to suffer from sleep related breathing disorders like sleep apnea and snoring as well.
Nervous system
The cerebro-spinal fluid in our bodies is enclosed in a protective membrane called the dura which is made up of connective tissue. As the dura loses its elasticity with age and becomes weaker, it starts exerting pressure on the vertebrae of the lower spine. This makes the bones of that area weaker, a condition called dural ectasia.
Dural ectasia might further cause severe pain in the abdominal area and/or weakness in the lungs.
Skin
People affected by Marfan syndrome have been known to develop stretch marks on their skin, without any significant gain or loss of weight. Well, stretch marks are hardly a cause of concern for a person whose cup of miseries is already overflowing and, for this reason, are usually ignored.
Stretch marks
Other than that, such people are more likely to develop abdominal hernia, a condition in which the affected person develops a huge bulge along the area of the stomach that contains intestines.
CONCLUSION:
Though Marfan syndrome symptoms listed above do look scary, people affected by this syndrome have (with a little care and discretion) been able to lead more or less normal lives. Though cardiac problems continue to rankle them all their life, most affected people learn to live with the syndrome gracefully.
Proper diagnosis, taking medicines in time and good care can go a long way in making the life of people affected by this syndrome more comfortable.
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