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Orthopedics & Joint Replacement | by CMRI
Marfan syndrome is an umbrella term for genetic disorders related to connective tissues. Although Marfan syndrome is rare, it can affect 1 in 5000 people and also cause potentially life-threatening conditions which are mostly associated with heart problems. It is only after a comprehensive analysis and diagnostic tests, we can distinguish Marfan syndrome from other medical conditions. This blog contains information about Marfan syndrome and how we can tackle the problem.
Marfan syndrome is a result of a genetic mutation which leads to connective tissue disorder. Connective tissues are the fibres that support and connect the organs across the human body. Hence, the disease most commonly targets the skeleton, heart, eyes, blood vessels, and lungs. But since connective tissues are found across the body, Marfan syndrome can affect multiple systems.
The appearance of people with Marfan syndrome is usually thin and tall. They also have unusually long arms, legs, fingers and toes. The condition can appear to be mild or severe depending on the degree of genetic mutation. Additionally, if the disease affects large blood vessels (which carry blood from the heart to the rest of the body) it can become life-threatening.
In medical terminology, the mutation in the FBN1 gene causes Marfan syndrome. Let us simplify it a bit. Our body tissues are made of a microfibril which is a strong ropelike structure. Microfibrils provide tissue integrity and form connective tissues in the body. The main component of this microfibril is a protein called fibrillin (FBN1 gene).
Most people with Marfan syndrome usually inherit abnormal genes from their parents, which is one of the primary reasons. Along with that, Marfan syndrome causes also include risk factors like certain lifestyles, diet, sports activity, etc. which may not directly impact the connective tissues but may increase the risk of other health conditions in later stages of life.
Marfan syndrome symptoms can vary greatly. Since the disease impacts different areas of the body, some people may only experience mild effects. On the other hand, Marfan syndrome symptoms can also lead to health conditions which can eventually become apparent. Also, confusing Marfan syndrome features with other tissue disorders can lead to life-threatening complications. Health problems associated with Marfan syndrome include -
Additionally, Marfan Syndrome features include the following -
It is usually challenging for people to exactly know if they have Marfan syndrome or not. Even for doctors, it is not a piece of cake, even with Marfan syndrome features. Even among the family members, Marfan syndrome signs can vary significantly. Therefore, the doctor will usually ask about your family history and check your medical report for a thorough examination.
Furthermore, there may be some tests which can help confirm the Marfan syndrome and pinpoint the area of impact. Diagnostic tests for Marfan syndrome include the following -
Marfan Syndrome has no cure since it is autosomal dominant which means it needs a single mutated copy of the gene to cause the disease. Therefore, the treatment focuses on preventing the disease from progressing further. If you are suffering from the condition, regular checkups can decrease the risk of complications and help you increase your quality of life.
For mild to moderate symptoms, the doctor may recommend medications and therapies. Certain medicines can lower blood pressure and help prevent the aorta from enlarging. As a result, medicines reduce the risk of dissection and rupture. In addition, certain vision problems due to dislocated eye lenses can be corrected with glasses or contact lenses.
The doctors may also recommend surgical options for effective treatment depending on the signs and symptoms of Marfan syndrome. Surgical procedures include -
Marfan syndrome has numerous effects on our body since the disease targets connective tissues. Most children and even adults are unaware of the Marfan syndrome symptoms and the impact they can have on their daily lives. Hence prolonging the treatment can increase the risk of several complications like -
Genetic disorders hinder the natural lifestyle of both adults and children. For most adults, it becomes extremely difficult to carry on with their careers, relationships, etc. Along with that, there is pressure of passing the defective gene to their children.
However, working together with parents and medical experts, we can provide emotional support for both children and adults and offer practical solutions for a better quality of life. Providing a friendly environment for children in school and at home can really boost their confidence and help them cope with the condition. Remember, there may not be a cure but there is always a solution.