Causes and risk factors:
Marfans syndrome is a genetic disorder. It occurs due to some frailty in the connective tissue. There is inheritance of defected gene from either of the parents.
Clinical presentations:
The symptoms are either milk or severe. It can be life threatening in cases where the heart and blood vessels are affected. It especially affects aorta and heart valves.Marfan syndrome affects various systems of the body thus producing a variety of symptoms. The person of marfans syndrome presents with abnormal height, the patients is lean and thin there is abnormal curvature of the spine and joint flexibility, protrusion of the sternum and small jaw is seen. The near and far vision is affected, retinal detachment and dislocation of lens can occur. Fatigue, palpitation, shortness of breath and cyanosis are the other presenting symptoms.
Diagnosis and investigations:
Diagnosis is done on the basis of symptoms narrated by the patient and examination carried out by the doctor. Genetic testing is done to confirm the diagnosis of Marfans Syndrome. Various investigations can be suggested which will aid in diagnosis like ultrasonography of abdomen; Echocardiogram, CT scan or MRI scan of the heart can also be done. Examination of the eyes can be carried out by the ophthalmologist.
Treatment:
There is no cure for Marfans syndrome, treatment consists of symptomatic relief which can ensure a better quality of life to the patient. Depending upon the system affected and the presenting symptoms the medications are advised.e.g: in cases of affection of the heart beta blocker or ACE inhibitors are affected. Surgery is opted in cases of retinal detachment, deviated spine or dislocated lens.
Other modes of treatment:
The other modes of treatment can also be effective in treating marfans syndrome. Homoeopathy is a science which deals with individualization and considers a person in a holistic way. This science can be helpful in combating the symptoms. The Ayurvedic system of medicine which uses herbs and synthetic derivates can also be beneficial in combating the complaints.
Recent Update:
An article is published in the August issue of journal of bone and joint surgeries are listed down certain diagnostic criteria for identifying Marfans syndrome.
