What Is Marfan Syndrome?
The disorder which is related to the connective tissues is known as Marfan syndrome. It is an inherited disorder and cannot be cured. But with proper surgery and medical attention it can be brought under control. A slight change in the lifestyle can improve the condition and the lifespan of the patient can be increased.
The person who has inherited this disorder has long thin fingers and long limbs which are totally disproportionate. Cardiovascular abnormalities are associated with it. Apart from heart the disorder can also affect the eyes, lungs as well as the spinal cord. The disorder has been named after the French pediatrician, Antoine Marfan, as he was the one who first noticed this disorder in a small girl.
Symptoms of Marfan Syndrome
With the help of good diet and regular exercises one can try to improve their life style. People afflicted with Marfan syndrome show no particular symptoms of the disorder. But one can identify a patient by looking at the unusually long limbs. Apart from the limbs there are various other features that are associated with the disorder.
Patients belonging to the same family can have different clinical features. Mostly the disorder is associated with the skeleton and the skin. Those afflicted with the disorder have height which is more than average. This is mostly due to the abnormality of the skeleton. Some of them have long and slender limbs along with long and slender fingers and toes.
The arms are disproportionately long and as a result the wrist portion is very weak. An abnormal curve in the spinal cord is common. They have stooped shoulders and flat feet. The people suffering from Marfan syndrome also suffer from speech disorder. The disorder has no cure so the only remedy is medical management. The disorder has to be treated as and when the symptom arises.
They should be treated with great care and patience. Regular visit to the cardiologist is essential so that the condition of the heart valves can be monitored. The main aim of the treatment is to slow down the deterioration of the heart and delay the damage. Medicines are administered to slow down the heart rate. Blood pressure too should be monitored.
Sometimes surgery is suggested but it might lead to various other complications. Regular visit to the doctor is essential as this helps them in keeping their condition under check. Any development has to be regularly updated. Though Marfan syndrome is a serious disorder but it is not life-threatening. There is a typical method of treating these symptoms which might affect the height and the life span of the patient.
Causes of Marfan Syndrome
The person afflicted with Marfan syndrome has an abnormal gene in the body. That gene is responsible for the production of fibrillin. This is a protein which is very essential for maintaining the structure of the connective tissues in the entire body in a normal manner. When the production is not proper it then affects the tissues and they become weak and abnormal.
One out of 5,000 people is affected with this disorder. The disorder is caused due to the mutation which occurs on chromosome 15. This single gene mutation changes the entire life of the afflicted person. Almost 75% of the cases are a result of inherited mutated gene and the remaining 25% is due to new mutation.
Marfan Syndrome Treatment
With the help of skin or blood tests the defective gene which is responsible for Marfan syndrome can be detected. If a family has a history of this particular disorder then with the help of antenatal diagnosis the disorder can be traced. As per the severity of the disorder and the symptoms the treatment varies.
Heart examinations should be carried at regular interval so that any problem in the heart can be detected at the earliest. They mostly suffer due to heart enlargement and this can be controlled to a certain extent by proper medication. Regular eye tests are also recommended. With the help of physiotherapy and to a certain extent surgery can improve the condition of the bones and help the patient live life with adequate help.
