Marfan syndrome affects many organs and systems in the body, and the severity of the symptoms can vary significantly among different patients. Although the syndrome is present from birth, noticeable features may not become evident until the individual gets older, particularly as the symptoms tend to worsen with age.
It is preferable for people with Marfan syndrome to notice the signs and be diagnosed as soon as possible. This helps to commence monitoring for signs of serious complications earlier and to implement management techniques in a timely manner.
The symptoms of Marfan syndrome are visibly evident in the skeletal system of affected individuals. The signs may include:
- Tall and slim build
- Long, thin limbs
- Large, flat feet
- Long, thin fingers
- Loose and flexible joints
- Breastbone protrusion or indentation
- Crowded teeth
Marfan syndrome can cause scoliosis, which is a health condition involving abnormal curvature of the spine. This can lead to symptoms of chronic back pain and may lead to difficulty breathing in severe cases. Spondylolisthesis is also more common among patients with Marfan syndrome, characterized by one vertebra slipping forward over another.
Patients with Marfan syndrome have a greater risk or developing dural ectasia, which is a condition involving the weakening and expansion of the dura membrane that lines the central nervous system.
This can cause symptoms such as pain in the back, headache and numbness in the legs, as a result of the membrane pressing against the vertebrae in the lower back.
Many patients that are affected by Marfan syndrome have some extent of vision disturbance. This may include:
- Lens dislocation
- Myopia (short sightedness)
- Cataracts and clouding of vision
- Retinal detachment
As a result of these visual problems, it is unsafe for some individuals to drive, as they may be a hazard to themselves and other individuals in the community. For this reason, patients are legally obliged to inform regulating bodies about any condition that could affect their ability to drive.
People with Marfan syndrome are at risk of certain symptoms related to the cardiovascular system and should be monitored for signs of complications.
The walls of the aorta, the main artery from the heart to the abdomen, can become weaker and lead to enlargement known as an aortic aneurysm. In severe cases, the aorta can rupture and cause internal bleeding that has the potential to lead to fatal outcomes.
The cardiac valves may also become damaged, resulting in abnormal blood flow through the heart. Individuals with Marfan syndrome are at greater risk of incomplete closure of the mitral and tricuspid valves, which may leak blood back into through the channel. The aortic valve can also be a cause of leakage and lead to enlargement of the left ventricle.
Stretch marks may appear in people with Marfan syndrome, causing pink, red or white streaks in the skin. This occurs due to the weakening and loss of elasticity in the skin tissue. These marks most commonly present on the shoulders, hips and lower back of affected individuals, due to the abnormal growth of bones in length.