Marfan syndrome is an inherited disorder. It affects the connective tissue, or that is the tissue fibers that connect, support, binds or separates organs and other structures in the body. This syndrome usually affects the eyes, heart, blood vessels and skeleton. People that have the Marfan syndrome have disproportionate body. They are tall and thin and their arms, fingers, legs and toes are longer than they should normally be in proportion to the rest of the body. The damage that the Marfan syndrome causes can be mild or severe. The condition can be serious if the heart or blood vessels are affected. However, there are usually medications that can control the condition up to a certain point. A surgery may be needed depending on which part of the body is being affected and the severity of the symptoms.
The symptoms of Marfan syndrome can be different. They can even vary among members of one family. Someone will feel mild effects, yet others can develop dangerous complications. Generally, the condition has a tendency to get worse with age.
The symptoms can be:
- Slender build
- Tall and thin body
- Disproportional arms, legs, fingers and toes
- Flat feet
- High arched palate and crowded teeth
- Extreme nearsightedness
- Abnormally curved spine
Marfan syndrome occurs when there is a defect in the gene that enables the body to produce the protein which gives the elasticity and strength to the connective tissue.
The Marfan syndrome is generally inherited. Usually, most of the people inherit the abnormal gene from a parent that has the disorder. Children have 50-50% chances to inherit the defective gene from the parents. In 25% of the cases the Marfan syndrome isn’t inherited, but a spontaneous mutation to the gene occurs.
Everyone can be affected by the Marfan syndrome, no matter gender, race or ethnicity. As it is a genetic disorder, the risk is higher if there is a history of the condition in the family, i.e. if the child has a parent with the disorder.
The Marfan syndrome can affect many body parts such as: the eyes, the heart, the blood vessels and the skeleton. That means that it can cause a variety of complications.
Cardiovascular complications that can occur are:
- Aortic aneurysm
- Aortic dissection
- Valve malformations
Eye complications can be:
- Lens dislocation
- Retinal problems
- Early-onset glaucoma or cataracts
- Abnormally curved spine
- Sunken breast bone
- Foot pain
- Low back pain
Complications that can occur during pregnancy- A woman’s heart is pumping more blood during pregnancy. What happens if the woman has the Marfan syndrome is that the syndrome affects the main artery that leaves the heart-the aorta. The walls of the aorta can become weaker and thus extra stress adds up to the aorta what increases the risk of fatal dissection or rupture.
Because there is no cure for Marfan syndrome, the treatment focus will be on prevention of the possible complications. In the past the life span of people with Marfan syndrome was very short, up to 40 years. Nowadays, due to modern treatments and regular monitoring people can expect a more normal life span.
There are several types of treatments that can be considered. The doctors may: prescribe medications, such as drugs that lower the blood pressure; recommend wearing glasses, contact lenses or having a surgery to repair dislocated lens in the eyes; recommend surgical and other procedures depending on the signs symptoms that appear (some examples are: aorta repair, scoliosis treatment, breast bone correction and others).
It is advisable certain recreational activities and competitive sports to be avoided especially if the person is at higher risk of aortic dissection or rupture. Safer sports or activities are those that are not very intensive such as: brisk walking, double tennis, golf or bowling.