People who experience Marfan syndrome find that their connective tissues do not function as they should, with affects in many of their body's systems. Marfan syndrome can affect a person's eye's, heart, blood vessels, skin, nervous system, their lungs, and even their skeleton.
The syndrome affects women, men and children and does not discriminate either racially or ethnically. Estimates place the numbers of people with Marfan syndrome in America at approximately one in five-thousand. Marfan syndrome is a lifelong disorder, although the outlook has improved in recent years. Receipt of an early diagnosis, along with medical advances, have improved the quality of life for people with the disorder leading to lengthened life spans. Early identification of risks factors such as aortic dilation give doctors the opportunity to intervene and either prevent or delay complications. The combination of early diagnosis and appropriate management of the condition give people with Marfan syndrome a life expectancy that is similar to people without the condition.
Causes of Marfan Syndrome
Marfan syndrome is caused by a mutation in a gene that determines the structure of, 'fibrillin,' a protein. Fibrillin is an important part of human connective tissue. People with Marfan syndrome are born with the disorder, although they may not be diagnosed with it until later in life. While everyone who experiences the disorder has the same defect in the gene, the particular mutation is specific to their family; not everyone experiences the same characteristics, or to the same degree. The difference in the mutation among families is referred to as, 'variable expression,' which means that the defective gene expresses itself in various ways among people. Medical science does not understand why variable expression happens in people with Marfan syndrome.
Children of people with Marfan syndrome have a fifty-percent chance of inheriting the disorder. At times, a new gene defect happens during the formation of either egg or sperm cells, yet two parents who are unaffected have only a one in ten-thousand chance of having a child with the syndrome. There is the potential that twenty-five percent of people with Marfan syndrome have it because of a spontaneous mutation that has occurred at the time of conception.
Diagnosing Marfan Syndrome
At this time, there is not a blood test, skin biopsy, or any other form of particular laboratory test available to diagnose Marfan syndrome. A doctor or geneticist depends upon observation, as well as the person's complete medical history, to make a diagnosis. The doctor will need to know information about the person's family members, including any members who may already have the disorder or who experienced an early and unexplained heart-related death. They will need to perform a complete physical examination, to include an evaluation of the person's skeletal frame for the ratio of their arm/leg size to their trunk size. An eye examination needs to be performed, to include a, 'slit lamp,' evaluation. The doctor will also perform an echocardiogram of the person's heart, or other forms of heart tests.
A diagnosis will be reached if the person has a family history of the disorder and specific issues with at least two of their body systems. People with no family history must have at least three of their body systems affected before a diagnosis of Marfan syndrome will be made. Two of the person's systems must also show clear signs which are relatively specific for Marfan syndrome as well.
For some people, genetic analysis might be useful, yet the analyzes are often time consuming. The analyzes also might not provide any additional information that is helpful. The family members of people who have been diagnosed with Marfan syndrome should not make the assumption that they are not affected if there is no knowledge that the disorder existed in prior generations of the family. Upon the clinical diagnosis of a family member, a genetic study could identify the particular mutation for which a test may be performed in order to determine if other members of the family are affected by the syndrome.
Treatment of Marfan Syndrome
Medical science has not found a cure for Marfan syndrome. Scientists, in order to develop one, might have to identify and change the particular gene that is responsible for the disorder before a person is born. There are; however, a number of different treatment options available that may minimize or prevent complications of the disorder. Specialists can develop individualized treatment programs for people. The specific approach a doctor will take in treating a person with Marfan syndrome depends upon which of the person's systems have been affected.
Nervous System: Should the person develop swelling of the covering of their spinal cord, referred to as, 'dural ectasia,' a doctor can administer medication to to help minimize associated pain.
Skeletal: Yearly evaluations are important for persons with the syndrome in order to detect any changes in their sternum or spine. It is extremely important during adolescence, and times of the person's life when they are experiencing rapid growth. Serious deformity may be disfiguring, and may also prevent the person's lungs and heart from working properly. A doctor might recommend either an orthopedic brace or surgery to limit damage or disfigurement.
Lungs: It is particularly important that people with Marfan syndrome not smoke because they already have an increased risk for lung damage. Problems with breathing while sleeping need to be assessed by a doctor.
Eyes: Early and regular eye examinations are the key to both catching and correcting any problems with vision which are associated with Marfan syndrome. Most of the time, eyeglasses or contact lenses can correct any issues, although at time surgery may be required.
Heart and Blood Vessels: Regular checkups and echocardiograms assist a doctor in the evaluation of the size of the person's aorta, as well as the way the person's heart is working. Early identification of potential problems helps to lower the risk of life-threatening complications. People with heart problems are encouraged to wear medical alert identification bracelets or necklaces, and to go to an emergency room should they experience back, chest, or abdominal pain. Beta-blockers can manage some heart valve issues, helping to decrease stress on the person's aorta. At other times, surgery is required to replace or repair a valve, or the person's aorta, which should be performed before their aorta reaches a size that places it at a high risk for either a tear or rupture. After a heart surgery, extreme care needs to be pursued to prevent inflammation of the person's heart cavity and valves, referred to as, 'endocarditis.' Dentists need to be aware of this risk to the person, and are likely to administer protective medications prior to performing dental work.
Mental Health: Being diagnosed with, as well as learning to live with, Marfan syndrome can cause emotional, social and financial stress. Many times it requires adjustments in a person's lifestyle and their outlook on life. Adults with the syndrome, upon being diagnosed, might feel afraid , angry, or concerned about passing the disorder to their children. They could have concerns about the disorder's implications. Parents and siblings of a child who has been diagnosed with Marfan syndrome might feel anger, sadness, and guilt. It is important that parents be aware that they did nothing to cause cause the fibrillin gene to mutate. Parents of children with Marfan syndrome might also be concerned about the risk to future children. Some children with the syndrome are advised to restrict their activities, leading to lifestyle adjustments which can be difficult for a child to understand and accept. For both children and adults it is important to receive medical care, information, and social supports that are appropriate; they are the keys to living with Marfan syndrome. Genetic counseling can also be beneficial to understanding the disorder, as well as the impact it may have on future generations.
Pregnancy: Women with Marfan syndrome who are pregnant pose a particular concern because of the stress on their body; specifically their heart. A pregnancy is something that should be undertaken only under conditions which are specified by obstetricians and additional specialists who are familiar with Marfan syndrome, and need to be pursued as high-risk conditions.
Diet: Consumption of a balanced diet is always important to maintenance of a healthy lifestyle. There is; however, no dietary supplement or vitamin that has demonstrated the ability to cure, slow, or prevent Marfan syndrome.