Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides strength, support, and elasticity to structures within the body, including the skin, skeletal system, blood vessels, and heart. It is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1, crucial for the formation of elastic fibers in connective tissue.
Key features and symptoms of Marfan syndrome include:
- Skeletal System Abnormalities: People with Marfan syndrome are often tall and thin with disproportionately long arms, legs, fingers, and toes. They may also have a curved spine (scoliosis), a sternum that protrudes outward (pectus carinatum) or dips inward (pectus excavatum), and joint hypermobility.
- Ocular Issues: Eye problems are common, especially lens dislocation, where the lens of the eye moves out of position. There's also an increased risk of developing cataracts and glaucoma.
- Cardiovascular Complications: This is the most serious aspect of Marfan syndrome. It can lead to abnormalities in the heart valves, such as mitral valve prolapse or aortic valve regurgitation. The most life-threatening issue is aortic dilation, where the aorta enlarges and can lead to aortic dissection or rupture, both of which are medical emergencies.
- Other Features: There can also be skin stretch marks, lung problems, and dural ectasia (enlargement of the dural sac surrounding the spinal cord).
Diagnosis is based on medical history, physical examination, and genetic testing. Criteria for diagnosis include specific skeletal, ocular, and cardiovascular features, along with a family history of the syndrome.
Management of Marfan syndrome typically involves regular monitoring and treating symptoms as they arise. This includes regular eye exams, heart imaging, and medications like beta-blockers to reduce stress on the aorta. In some cases, surgery might be necessary, especially if there's significant enlargement of the aorta or complications involving heart valves.
Lifestyle modifications are also important. Individuals with Marfan syndrome are generally advised to avoid competitive sports and activities that strain the cardiovascular system. Early diagnosis and management can significantly improve the life expectancy and quality of life for individuals with Marfan syndrome.
