Knowing about Marfan syndrome symptoms can help the patients suffering from this disorder deal with it. Marfan syndrome is, by and large, a genetic disorder that pertains to the connective tissue.
The function of the connective tissue in our body is to support and bind the other tissues in the body. In people who suffer from Marfan syndrome, the vital parts of the body like the eyes, skeleton, heart and blood vessels, skin, nervous system and the lungs get affected due to the malfunctioning of the connective tissue.
Marfan syndrome Symptoms
Marfan syndrome can affect men, women and children alike, and has been known to affect people belonging to all races and ethnical backgrounds. According to estimates, nearly 1 in 5,000 people in the US suffer from this disorder.
Marfan syndrome symptoms show wide variations even among members of the same family. While some people may show only mild symptoms, others can be severely affected. The complications usually increase with age.
The parts of the body which are affected by the Marfan syndrome include:
One of the most noticeable Marfan syndrome symptoms is people with very slender frames who are taller than usual. The bones of the entire body are longer than among non-affected people, causing the patients to have long toes and fingers and disproportionately long arms and legs.
The face is also long and narrow and in some cases, the roof of the mouth is arched leading to crowded teeth. The sternum (breastbone) might be sunken or protruding in some people, some suffer from scoliosis (curved spine) while others have flat feet. The joints are weak and get dislocated easily.
A majority of the people suffering from this disorder have eye problems. While nearly 50% of them suffer from lens subluxation (dislocation of the lens in one or both the eyes), others suffer from myopia (shortsightedness) or a difference in the shape of the eyes. High pressure inside the eye (glaucoma), blurring of the lens of the eye(s) (cataract) and retinal detachment may also be indicative of Marfan syndrome.
The Nervous system:
Dura, the membrane in which the cerebro-spinal fluid is enclosed is made up of connective tissue. With age, the Dura loses its elasticity and becomes weak. It then starts exerting weight on the vertebrae of the lower spine, causing the weakening of the bone of that area- a condition called Dural Ectasia. This complication might cause abdominal pain or weakness or numbness in the lungs.
People suffering from this disorder are prone to problems of the heart and blood vessels. The inherent weakness of the connective tissue leads to aortic dilation i.e. weakening of the wall of the aorta (the artery that is responsible for pumping oxygenated blood from the heart to the rest of the body).
This puts the patient at a greater risk from aortic dissection (rupturing of the aorta) and cause serious heart problems. Marfan syndrome may also cause life threatening defects in the valves of the heart (especially the mitral valve).
The valves do not shut tightly as they would in a normal person causing, at times, blood to flow backwards or leaking valves (a condition called MVP or Mitral Valve Prolapse), ‘heart murmur’, palpitations, breathlessness, fatigue and in extreme cases, even death. In some cases, the heart of the patient enlarges and may even lead to heart failure.
Due to lack of elasticity in the connective tissue, the air sacs of the lungs face the risk of getting stretched or swollen, putting the patients at a greater risk to lung collapse. However, such cases are not too common.
Some people showing Marfan syndrome symptoms may develop sleep related breathing disorders like sleep apnea or snoring. Chances of other lung related problems like pneumonia, emphysema, asthma, bronchitis, etc. are also higher.
People suffering from Marfan syndrome are likely to develop stretch marks on their skin without any significant changes in weight. Though such marks do not pose any threat to the patient’s general health, they certainly do add to his list of complications.
Besides, such patients are at a greater risk of abdominal hernia- a condition in which the part of the stomach that contains the intestines develops a noticeable bulge.