About Marfan Syndrome
Marfan syndrome is a genetic disorder that affects the body's connective tissue progressive. The connective tissue is everywhere in the body, which structure and support for cells. Think of it as a kind of "glue" that supports every organ, blood vessels, bone, joint and muscle pain helps.
In people with Marfan syndrome, the "glue" is weaker than normal due to a defect in the body's production of the protein fibrillin, a major component of connective tissue. Weakened connective tissue can cause problems in many parts of the body, especially the heart, eyes and bones.
Even if the disease is not curable, the good news is that doctors can successfully treat just about all of his symptoms. Just a few decades ago, most people do not live with Marfan syndrome in the past 40 Now, thanks to new research and treatments, those who are diagnosed early and get good medical care just about the same life as everyone else.
Current research on a group of drugs called ACE inhibitors appears extremely promising and is likely to further improve the health of people with Marfan syndrome.
Causes
Marfan syndrome is very rare, affecting about 1 in every 5,000 people. Researchers have the problem of a defect in a gene found on chromosome traced 15th It is this mutation (change) that causes the abnormality in the production or structure of fibrillin.
About 75% of the time, running the gene for Marfan syndrome in the family, always down, passed to children of parents who have the illness. The gene is autosomal dominant, which means every child born, a parent who has Marfan syndrome has a 50% chance that it also.
In the remaining 25% of cases, but no parent has the disease, the genetic mutation responsible for Marfan syndrome occurs spontaneously in either the egg or sperm at the time of conception. No one knows what causes this mutation, but have born with it a 50% chance of passing on to their children.
Although people with Marfan syndrome often have similar physical characteristics, the disease is not at all affect the same way. Some have very mild symptoms, while others have severe ones - even within the same family. This is known as "variable expression," and it makes it almost impossible to predict how the disease in the affected individual progress.
Signs and symptoms
People with Marfan syndrome are often (but not always) much larger than their family members and colleagues and have a lean, lanky build. Her fingers and toes are usually long and thin, and their connections are loose. Her arms and legs are often disproportionately long when compared to her upper body and her arm span is often much greater than its height.
You can share some of the features of the face, too, including a long, narrow face, deep-set eyes, a small jaw, a high arched roof of the mouth and crowded teeth.
Complications
People with Marfan syndrome are also prone to complications in the following body systems:
Heart and Blood Vessels
The most serious complication of Marfan syndrome involves the heart. Over time, the disturbance can cause the aorta - the large artery that carries blood from the heart to the body - to stretch and stretch (expand).
If undetected or untreated, the walls of the aorta can eventually begin to crack and separate, allowing blood to leak through (this is known as aortic dissection). A large, sudden rupture can be fatal.
Problems with the heart valves are often also. Instead of closing permanently, can valves (usually the mitral and / or aortic valves) tall and limp, allowing blood to leak backward through the heart. A small leak can cause some symptoms, but a great one to shortness of breath and an irregular heart beat and a heart murmur. Leaky heart valves cause the heart to work harder and increases, they must be carefully monitored.
Eye
More than half of all people with Marfan syndrome have a condition known as "dislocated lenses." This means that the lenses of the eye, centered generally behind the pupil, and the point with tissue may move up, down or sideways. Visual disturbances may occur depending on the position of the lens. The vision problems may require glasses at first, and later may require surgery.
People with Marfan syndrome often have also myopia (nearsightedness), and they have a higher risk of developing other problems - such as retinal detachment (when the light-sensing tissue at the back of the eye comes loose), glaucoma (high pressure in the eye) or cataract (cloudy lens) - earlier in life than other people. Young children are particularly susceptible to developing amblyopia (lazy eye).
Skeletal problems
In addition to excessive height and long limbs can cause Marfan syndrome, other skeletal problems, such as scoliosis (curvature of the spine) and chest wall abnormalities (the breast bone can either protrude inward or so that the chest a sunken-in, or a pigeon -breasted appearance). Too loose joints and flat feet are common.
Other symptoms may include the skin, the nervous system and the lungs, but these are less frequent and less severe in general, especially in children and adolescents.
Diagnosis Marfan syndrome
There is no single test to diagnose Marfan syndrome. Diagnosis depends on detailed examinations of a team of doctors, including a geneticist (a doctor who specializes in genetic disorders), a cardiologist (heart specialist), ophthalmologist (eye doctor) and an orthopedist (bone specialist). Molecular testing for a mutation in the FBN1 gene is part of the comprehensive evaluation.
First, a geneticist will ask about any family history of the disorder or whether any relatives died early from heart-related deaths. He or she can also detailed measurements skeleton. The geneticist may order mutation testing on a small blood sample.
A cardiologist can listen for a heart murmur and is likely to perform tests such as:
a chest X-ray
an electrocardiogram (ECG), which measures electrical activity in the heart
echocardiography, which uses sound waves to generate an image of the heart, to check the size of the aorta and the operation of the valves
An eye doctor can perform a "slit lamp" test (a slit lamp allows the doctor to see in front of the eye under high magnification), while the eyes are dilated to check for lens dislocation and other anomalies.
An orthopedist will check for curvatures of the spine and sternum as well as joint problems and flat feet.
Diagnostic criteria
The criteria for the diagnosis of Marfan syndrome are complex, especially because many features of the syndrome in the general population (of course, not everyone has tall, thin person with long fingers the error) appear, and because other connective tissue diseases overlapping functions . Recently, the criteria are adjusted to account for the presence of a mutation in the gene FBN1 in the evaluation.
If it already started a family history, a diagnosis of Marfan syndrome to problems in two of the systems of the body can be known to be affected based.
If there is no family history, diagnosis requires very specific knowledge in various systems. This can be frustrating for parents because the symptoms do not appear during childhood, but develop over time, and a definitive diagnosis can sometimes take years. Finding a mutation in the FBN1 gene may help to confirm a diagnosis.
Fortunately, the doctors can treat the symptoms, even before a definite diagnosis.
Monitoring and treatment
Children and adolescents with Marfan syndrome have closely followed by a team of doctors to be followed. Because their bodies are growing and changing so quickly, most will need echocardiograms at least once per year, plus frequent eye and bone exams. This helps doctors stay on top of every new problem.
Children and adolescents with Marfan syndrome can do many things to help keep yourself healthy. The important thing is to avoid having an extra burden on the heart. That means avoiding contact sports or other activities, which is a lot of running, muscle tension, or the risk of a blow to the chest - things like basketball, football, baseball, gymnastics, weightlifting, and track, to name a few.
Be active
Children with Marfan syndrome are not intended to be couch potatoes. You can and should play, train, and be active in general - they just need to learn a little more careful. Although a doctor should always be the last thing on activities safely say things continue as non-competitive cycling, swimming, dancing, walking - everything low-impact, and can be done at a slower pace - usually get the green light .
Many of the complications of Marfan syndrome can be managed with medication, and if necessary surgery. Medications such as beta-blockers work known to lower blood pressure and wear on the blood vessels, and can often delay the progression of aortic dilatation. If the aorta has eventually expand to a potentially dangerous size, or if valve leakage becomes a problem, surgery may be recommended to repair or replace the damaged parts of the heart.
Children who are nearsighted or amblyopia (lazy eye), you probably have to wear glasses. Teens may be able to wear contact lenses. In some cases, when the lens of the eye is severely dislocated or if there are other complications, surgery may be necessary.
Children can develop scoliosis, wearing a special back support. Sometimes severe cases of scoliosis and chest wall abnormalities may require surgery. Some teens may want to have surgery for cosmetic reasons.
Anyone (especially those who have had heart surgery) with heart problems with Marfan syndrome are connected, you should always take antibiotics before going to the dentist to prevent bacterial endocarditis, an infection of the walls of the heart, when bacteria get into the bloodstream.
It is recommended that children and adolescents with Marfan syndrome wear a medical alert bracelet if it can not explain to an accident and the patient, his or her disease.
Teen girls with Marfan syndrome should also be made aware that a pregnancy additional strain on the heart and can increase the risk of damage to the aorta.
Caring for your child
It is not easy to learn, your child has a genetic disorder. It is normal to have a whole range of emotions, from fear and anger to sadness and guilt. But causes the genetic mutation, Marfan syndrome, no one is to blame and could not have been prevented.
The first thing you can do to help your child is to educate yourself and look for physicians who are well informed about the disease and its treatment. An experienced medical team is your child the best opportunity to prevent or delay complications. Your family can also benefit from a visit with a genetic counselor.
To cope with more tips for helping your child:
Be honest, when faced with questions about the disease, your child or others. Your child will be sure that you are discussing probably will.
Promoting healthy self-esteem and body image from an early age by recognizing your child's differences in a positive light. Also, teach your child constructive ways to deal with teasing.
Try to younger kids gently toward activities that they do not have to give up later lead -., For example, encourage music or computers over basketball If your child is older when diagnosed and is forced to some of the most popular sports that develop other talents and interests.
Stay in touch with teachers and explain that even though Marfan syndrome does not affect your child's intelligence, some changes in the class may be required (for example, let your child sit near the board if vision is a problem) .
Search for safe activities
Talk to the P.E. Teachers about safe vs. unsafe acts and ask that your child be included, even if he or she can not keep up (for example, if your child not to play in the football game, he or she can be the judges?).
Encourage exercise. Staying active is important for everyone, including children with Marfan's syndrome, so ask your doctor for a list of appropriate activities.
Above all, remember that children need to be children! Children with Marfan syndrome need to play and to laugh and to learn that there is so much more they can do when they can not.
If you or your child needs to adapt to a diagnosis of Marfan syndrome, a support group in your area or looking to seek professional advice.
When to call the doctor
Although aortic dissection is extremely rare in children, call the doctor if your child has chest pain, shortness of breath (especially during exercise), an irregular heartbeat, sudden weakness or tingling in the arms and legs or an unexplained fever. Also call the doctor if your child experiences any sudden vision changes.