This was the reaction of a young patient named Roan, "When my doctors told me I had Marfan, I didn't understand what it was or what to do about it. The doctors couldn't provide much information. Marfan syndrome is very rare." When Roan was in seventh grade, her mother Jovie became concerned when she grew taller than even her older brother. The physician suspected Roan had Marfan syndrome. It is a rare genetic disorder that affects the connective tissues in the body and can have impact on many body systems. They include skin, lungs, skeleton, heart, eyes, blood vessels and nervous system. The physical traits common in people suffering from Marfan syndrome include a tall and slender built, narrow face, spinal abnormalities and loose joints. It’s a rare genetic disorder and its treatment depends on the organ system that is affected. Treatment can include medications, surgery, lifestyle changes, or a combination of all these. Patients suffering from Marfan syndrome may require genetic and reproductive counseling too. However, before any treatment begins, it is very important to diagnose the problem, which in turn, is possible is you are aware of the warning signs. Read on to explore the same in detail.
Common Signs & Symptoms Of Marfan Syndrome
- Tall Structure - The patients of Marfan syndrome have an exceptional tall frame, especially in relation to their age.
- Thin Physique - Any growth abnormality or unexplained weight loss might point towards this syndrome.
- Skeletal Abnormalities - There can be changes in the bone structure. They include long bones, spider like fingers, long fingers, long arms, long legs, long toes, narrow face, loose joints, flat feet, indented sternum, protruding sternum and curvature of the spine (scoliosis)
- Breathing Problems - Snoring, sleep apnea and sleep related breathing disorders count amongst the symptoms of Marfan syndrome.
- Heart Abnormalities & Related Symptoms - In the syndrome, the heart can show symptoms of aorta enlargement, heart murmur, aortic dilation, fatigue, shortness of breath, palpitations, and abnormal valve motion.
- Nervous System Problems - Dural ectasia, leg pain, leg numbness, radiated abdominal pain, and leg weakness are some of signs that are present in case of Marfan syndrome.
- Eye Abnormalities - Possible eye-related symptoms seen in Marfan syndrome are lens abnormality, myopia and lens dislocation.
- Skin Abnormalities - Marfan syndrome might affect the skin in the form of stretch marks on the body.
- Other Symptoms - The other common symptoms of Marfan syndrome are hollow chest, pigeon chest, joint hyper mobility, archnodactyly, long hand bones and thumbs, tall stature, kyphosis, and reduced muscle tone.