This booklet answers general question about Marfan syndrome. It describes the characteristics of the disorder, the diagnostic process, and ways to be in charge of symptoms. If you have auxiliary questions after reading this booklet, you may want to discuss them with your doctor.
* What Is Marfan Syndrome?
* What Are the Characteristics of Marfan Syndrome?
* What Causes Marfan Syndrome?
* How Is Marfan Syndrome Diagnosed?
* What Types of Doctors Treat Marfan Syndrome?
* What Treatment Options Are Available?
* What Are Some of the Emotional and Psychological Effects of Marfan Syndrome?
* What Is the Outlook for a Person With Marfan Syndrome?
* What Research Is Being Conducted To Help People With Marfan Syndrome?
* Where Can People Find Additional Information About Marfan Syndrome?
What Is Marfan Syndrome?
Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and nouns. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect frequent body systems, including the skeleton, eyes, heart and blood vessels, on edge system, skin, and lungs.
Marfan syndrome affects men, women, and children, and has be found among people of adjectives races and ethnic background. It is estimated that at least 1 contained by 5,000 people surrounded by the United States have the disorder.
What Are the Characteristics of Marfan Syndrome?
Marfan syndrome affects different ancestors in different ways. Some family have solely mild symptoms, while others are more severely affected. In most cases, the disorder progresses as the character ages. The body systems most often artificial by Marfan syndrome are:
* Skeleton--People with Marfan syndrome are typically totally tall, slender, and loose jointed. Since Marfan syndrome affects the long bones of the skeleton, arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body. A party with Marfan syndrome recurrently has a long, get thinner face, and the roof of the mouth may be arched, cause the teeth to be crowded. Other skeletal abnormalities include a sternum (breastbone) to be exact either protruding or indented, curvature of the spine (scoliosis), and flat foot.
* Eyes--More than half of adjectives people beside Marfan syndrome experience dislocation of one or both lenses of the eye. The lens may be slightly higher or lower than middle-of-the-road and may be shifted off to one side. The dislocation may be minimal, or it may be pronounced and clear. Retinal detachment is a possible serious complication of this disorder. Many people next to Marfan syndrome are also nearsighted (myopic), and some can develop early glaucoma (high pressure in the eye) or cataracts (the eye's lens loses its clearness).
* Heart and blood vessel (cardiovascular system)--Most people near Marfan syndrome have abnormality associated with the heart and blood vessel. The valve between the gone chambers of the heart is defective and may be generous and floppy, resulting in an abnormal tap motion when the heart beats. In some cases, the spout may leak, creating a "heart murmur," which a doctor can hear next to a stethoscope. Small leaks may not grounds any symptoms, but larger ones may cause shortness of breath, fatigue, and palpitations (a intensely fast or irregular heart rate). Because of not working connective tissue, the wall of the aorta (the large artery that carry blood from the heart to the rest of the body) may be weakened and stretch, a process call aortic dilation. Aortic dilation increases the risk that the aorta will tear (aortic dissection) or rupture, cause serious heart problems or sometimes sudden death.
* Nervous system--The brain and spinal cord are surrounded by fluid contained by a membrane call the dura, which is composed of connective tissue. As people near Marfan syndrome get elder, the dura often weaken and stretches, then begin to weigh on the vertebrae in the lower spine and grind down the bone surrounding the spinal cord. This is called dural ectasia. These change may cause solitary mild discomfort or may lead to radiate pain surrounded by the abdomen or to dull pain, numbness, or weakness of the legs.
* Skin--Many relatives with Marfan syndrome develop stretch grades on their skin, even without any immensity change. These stretch results can occur at any age and pose no form risk. However, people next to Marfan syndrome are also at increased risk for developing an abdominal or inguinal hernia where a bulge develops that contains cut of the intestines.
* Lungs--Although connective tissue abnormalities trade name the tiny air sac within the lungs smaller number elastic, ancestors with Marfan syndrome roughly do not experience noticeable problems near their lungs. If, however, these tiny air sac become stretched or swollen, the risk of lung collapse may increase. Rarely, people beside Marfan syndrome may have sleep-related breathing disorders such as snoring or sleep apnea (a sleep disorder characterized by brief period when breathing stops).
What Causes Marfan Syndrome?
Marfan syndrome is caused by a deformity (mutation) in the gene that determines the structure of fibrillin, a protein to be exact an important member of connective tissue. A person next to Marfan syndrome is born with the disorder, even though it may not be diagnosed until following in existence. Although everyone with Marfan syndrome have a defect surrounded by the same gene, the mutation is specific to respectively family and not everyone experiences equal characteristics to the same amount. This is called unpredictable expression, meaning that the defective gene expresses itself within different ways in different citizens. Scientists do not yet get why variable expression occur in folks with Marfan syndrome.
The defective gene can be adjectives: The child of a person who have Marfan syndrome has a 50 percent opening of inheriting the disease. Sometimes a new gene malformation occurs during the formation of sperm or egg cell, but two unaffected parents hold only a 1 contained by 10,000 chance of have a child with Marfan syndrome. Possibly 25 percent of cases are due to a spontaneous mutation at the time of conception.
How Is Marfan Syndrome Diagnosed?
There is no specific laboratory audition, such as a blood test or skin biopsy, to diagnose Marfan syndrome. The doctor and/or geneticist (a doctor near special knowledge nearly inherited diseases) relies on supervision and a complete medical history, including
* information about any people members who may hold the disorder or who had an hasty, unexplained heart-related death
* a thorough physical examination, including an evaluation of the skeletal frame for the ratio of arm/leg size to trunk size
* an eye nouns, including a "slit lamp" evaluation
* heart test such as an echocardiogram (a test that uses ultrasound top to examine the heart and aorta).
The doctor may diagnose Marfan syndrome if the patient have a family history of the disease and near are specific problems in at least possible two of the body systems known to be artificial. For a patient beside no family history of the disease, at smallest three body systems must be affected since a diagnosis is made. Moreover, two of the systems must show clear signs that are relatively specific for Marfan syndrome.
In some cases, a genetic analysis may be useful, but such analyses are recurrently time consuming and may not provide any additional accepting information. Family members of a personage diagnosed with Marfan syndrome should not assume they are not artificial if there is no practice that the disorder existed in previous generation of the family. After a clinical diagnosis of a inherited member, a genetic study might identify the specific mutation for which a theory test can be performed to determine if other kith and kin members are artificial.
What Types of Doctors Treat Marfan Syndrome?
Because a number of body systems may be artificial, a person beside Marfan syndrome should be cared for by several different types of doctors. A nonspecific practitioner or pediatrician may oversee routine health attention to detail and refer the patient to specialists such as a cardiologist (a doctor who specializes within heart disorders), an orthopaedist (a doctor who specializes in bones), or an ophthalmologist (a doctor who specializes within eye disorders) as needed. Some people beside Marfan syndrome are also treated by a geneticist.
What Treatment Options Are Available?
There is no cure for Marfan syndrome. To develop one, scientists may have to identify and transmute the specific gene responsible for the disorder before birth. However, a selection of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctor uses depends on which systems own been artificial.
* Skeletal--Annual evaluations are important to detect any change in the spine or sternum. This is specially important contained by times of rapid growth, such as young adulthood. A serious deformity can not individual be disfiguring but can also prevent the heart and lungs from functioning properly. In some cases, an orthopedic brace or surgery may be recommended to limit harmed and disfigurement.
* Eyes--Early, regular eye examinations are key to catching and correcting any trance problems associated with Marfan syndrome. In most cases, eyeglasses or contact lenses can correct the problem, although surgery may be obligatory in some cases.
* Heart and blood vessels--Regular checkups and echocardiograms serve the doctor evaluate the size of the aorta and the way the heart is working. The nearer a potential problem is identified and treated, the lower the risk of life-threatening complications. Those with heart problems are provoked to wear a medical alert bracelet and to go to the emergency room if they experience chest, wager on, or abdominal pain. Some heart spout problems can be managed near drugs such as beta-blockers, which may help fade stress on the aorta. In other cases, surgery to replace a valve or repair the aorta may be indispensable. Surgery should be performed formerly the aorta reaches a size that puts it at elevated risk for tear or rupture. Following heart surgery, extreme contemplation must be followed to prevent endocarditis (inflammation of the lining of the heart cavity and valves). Dentists should be alerted to this risk; they are imagined to recommend that the patient be prescribed protective medicine before they act dental work.
* Nervous system--If dural ectasia (swelling of the covering of the spinal cord) develops, medication may help minimize any associated dull pain.
* Lungs--It is especially important that those with Marfan syndrome not smoke, as they are already at increased risk for lung disrupt. Any problems with breathing during sleep should be assessed by a doctor.
Pregnancy poses a finicky concern due to the stress on the body, particularly the heart. A pregnancy should be undertake only underneath conditions specified by obstetricians and other specialists familiar near Marfan syndrome and be followed as a high-risk condition.
While eating a fair diet is important for maintain a healthy lifestyle, no vitamin or dietary supplement have been shown to assistance slow, cure, or prevent Marfan syndrome.
What Are Some of the Emotional and Psychological Effects of Marfan Syndrome?
Being diagnosed and learning to live next to a genetic disorder can cause social, wild, and financial stress. It often requires a large amount of adjustment in outlook and lifestyle. A personage who is an adult when Marfan syndrome is diagnosed may consistency angry or afraid. There may also be concerns about endorsement the disorder to future generation or about its physical, excited, and financial implications.
The parents and siblings of a child diagnosed beside Marfan syndrome may feel gloominess, anger, and guilt. It is important for parents to know that zilch that they did caused the fibrillin gene to mutate. Parents may be concerned more or less the genetic implications for siblings or enjoy questions more or less the risk to future children. Some children beside Marfan syndrome are advised to restrict their deeds. This may require a lifestyle adjustment that may be hard for a child to think through or accept.
For both children and adults, appropriate medical assistance, accurate information, and social support are key to living next to the disease. Genetic counseling may also be helpful contained by understanding the disease and its potential impact on adjectives generations.
What Is the Outlook for a Person With Marfan Syndrome?
While Marfan syndrome is a lifelong disorder, the outlook have improved within recent years. Early diagnosis and advances contained by medical technology have better the quality of enthusiasm for people near Marfan syndrome and lengthened their lifespan. In addition, untimely identification of risk factor (such as aortic dilation) allows doctors to intervene and prevent or delay complications. Advances one made by researchers provide hope for the future. With rash diagnosis and appropriate management, the natural life expectancy for someone with Marfan syndrome is similar to that of the average human being.
What Research Is Being Conducted To Help People With Marfan Syndrome?
Scientists are approaching research on Marfan syndrome from a variety of perspective. One approach is to better understand what happen once the genetic defect or mutation occur. How does it change the mode connective tissue develops and functions in the body? Why are relatives with Marfan syndrome artificial differently? Scientists are searching for the answers to these question both by studying the genes themselves and by studying large loved ones groups affected by the disease. Newly developed mouse models that convey mutations in the fibrillin gene may help out scientists better understand the disorder. Animal studies that are preliminary to gene analysis are also under route.
Other scientists are focusing on ways to treat some of the complications that arise in people near Marfan syndrome. Clinical studies are being conducted to evaluate the usefulness of correct medications contained by preventing or reducing problems with the aorta. Researchers are also working to develop latest surgical procedures to help remodel the cardiac health of individuals with Marfan syndrome.
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