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Marfan Syndrome: Causes, symptoms and Treatment

Being slim, skinny, tall and sexy can attract eyeballs. If your limbs are long and skinny, don’t get flaunted by it. It’s sometimes makes you feel like a scary ghost in the dark room. Well, we are not talking about reel life horror story, but a real life medical ailment that is sending shivers in United States.
Well that’s ‘Marfan Syndrome’, a disorder that is related to connective tissues in our human body. It is a mutation in the gene that makes ‘fibrillin-1’, which is an important protein for formation of connective tissues.


‘Marfan Syndrome’ is one of the rare diseases that upset the entire human system. It can be hereditary or not. The signs and symptoms are numerous, almost showing a visibility, without undergoing series of medical tests.
The symptoms of ‘Marfan Syndrome’ vary from patient to patient in several ways. Some may show mild symptoms, while others may show severe signs. The syndrome progresses with an advancement in age.
For treatment, you need to be treated under different specialists:
• A family physician
• Cardiologist
• Orthopedic
• Eye specialist

The most common symptoms of Marfan Syndrome are as under:

Skeletal abnormalities: The sight is literally scary. Here, the patients are typically tall and loose-jointed. There are skeletal abnormalities of the arms and legs with loose fingers and toes, which may be inexplicably long than other parts of the body. His facial bones and the roof of the mouth may be domed with non-aligned teeth. In rare cases, the feet may be completely flattened or there is curvature of the spine.
Dislocation of eye lenses: This is the most common symptom in most of the ‘Marfan Syndrome’ patients. Here, the patients may experience dislocation of one or both of the eye-lenses. Normally, patients with signs of shortsightedness, cataract and glaucoma are prone to this ailment.
Irregularity of heart and blood vessels: Majority of the ‘Marfan Syndrome’ patients shows symptoms of irregular functioning of cardiovascular system. Here, the valve of the left chambers becomes large, thereby leading to irregular valve motion when the heart beats. In some cases, when the valve leaks to a larger extent, they cause shortness of breath fatigue and palpitations. Likewise, due to malformation of connective tissues, they lead to high chances of aortic dilation. This increases the risk of aorta rupture, which proves to be fatal.
Numbness of the limbs: Our brain and spinal chord are surrounded by fluid contained by a membrane called the dura. As the patient advances with age, the dura weakens and stretches. This in turn creates a pressure on the lower spine. If untreated, it causes numbness of the limbs.
Stretch marks: Stretch marks occur even without the change in weight at any age. Here, there are increasing high chances of being succumbed to inguinal hernia, which gets slightly bulged out.
Inelasticity of air sacs: In rare cases, patients generally do not notice their respiratory levels. Due to the abnormalities of the connective tissue, it makes tiny air sacs within the lungs less elastic. If these tiny air sacs become highly elastic, there are high chances of lung collapse.
Lack of sleep: In most cases, marfan syndrome patients generally face sleep related problems. The common symptom is sleep apnea.

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