Marfan Syndrome: Diagnosis & Eye Care

What Causes Marfan Syndrome?

Marfan Syndrome is caused by a mutation in the FBN1 gene, which produces a protein called fibrillin-1. This mutation leads to issues with the strength and elasticity of connective tissues throughout the body. Most cases are inherited from a parent with the disorder, though some can occur spontaneously.

Types of Marfan Syndrome

Although there is just one type of Marfan Syndrome, its severity can vary greatly between individuals. Some people may experience only mild symptoms, while others may develop severe, life-threatening complications.

Symptoms of Marfan Syndrome

Marfan Syndrome can affect various parts of the body. Common symptoms include:

• Ocular (Eye) Symptoms: Nearsightedness, lens dislocation (ectopia lentis), retinal detachment, early-onset cataracts, and glaucoma.
• Cardiovascular Symptoms: Enlarged aorta (aortic aneurysm), heart valve abnormalities, and risk of aortic dissection.
• Skeletal Symptoms: Long arms, legs, and fingers (arachnodactyly), scoliosis, chest abnormalities (pectus excavatum), and joint hypermobility.

How is Marfan Syndrome Diagnosed?

Marfan Syndrome diagnosis can be complex, involving:

• Clinical Evaluation: A thorough medical history review and physical examination by a specialist.
• Eye Examination: To check for lens dislocation, retinal problems, or glaucoma.
• Genetic Testing: FBN1 gene testing can confirm the diagnosis.
• Imaging Tests: Echocardiograms or MRIs to assess heart and aorta conditions.

Consulting a specialist like Dr. Suraj Munjal can ensure the correct tests are done to diagnose and manage Marfan Syndrome.

Treatment for Marfan Syndrome

While there is no cure for Marfan Syndrome, various treatment options can help manage the symptoms and prevent complications:

• Ocular Treatment: Regular monitoring, corrective lenses, or surgery for lens dislocation or other eye-related issues.
• Cardiovascular Treatment: Medications to lower blood pressure, regular monitoring of the heart and aorta, and, in some cases, surgery.
• Skeletal Treatment: Physical therapy or surgery may be needed to correct bone or joint issues.

Early intervention can greatly improve quality of life and reduce the risk of complications.

Cost of Treatment and Stay in India

India has become a hub for medical tourism due to its high-quality care and affordable treatment options. The cost of treating Marfan Syndrome in India varies based on the specific needs of the patient. However, medical care here is generally much more affordable than in Western countries.

For international patients, India offers world-class healthcare facilities, experienced doctors, and a pleasant stay at a fraction of the cost. Dr. Suraj Munjal’s practice offers tailored care plans, including consultations, surgeries, and post-operative care at competitive prices.