Marfan Syndrome was named after Antonin B. J. Marfan, a French pediatrician who discovered the disease in the 1930’s. It occurs in approximately 1 in 5,000 births and is an incurable disorder of the connective tissue. It’s a dominant trait linked to any of the 22 numbered chromosomes but it’s not linked to the sex chromosomes. A parent who has Marfan Syndrome has a 50 percent chance of passing the gene to his or her children but approximately 25 percent of those with Marfan Syndrome have no family history of the disease. Although Marfan’s isn’t inherently fatal, it can cause heart problems and therefore result in a shorter lifespan for some. Early diagnosis and treatment can prolong longevity.
Marfan Syndrome causes angular features along with abnormally long, thin limbs and digits. Additional signs and symptoms of Marfan Syndrome include:
Marfan Syndrome can appear at any age; it’s visible in some people at birth but may lie dormant in others until they are well into adulthood. Features can become more pronounced as the individual ages.
Early diagnosis ensures the optimal treatment regimen and outcome since early treatment can minimize the effects of the disease. Although some signs may not present until later in life and some signs may have other causes, when several of the symptoms present simultaneously, particularly if there is a family history of Marfan Syndrome, the individual should be tested for the presence of the disease. Even in the same family, no two individuals will present exactly the same.
Signs and symptoms of Marfan Syndrome may be concentrated in one part of the body or they be in may two or more areas. Individuals can have some symptoms of Marfan Syndrome but not enough to be diagnosed with the disease. Genetic testing can confirm or eliminate the presence of Marfan’s and may be combined with an echocardiogram, an electrocardiogram, an eye exam, and/or other tests such as a CT, or computerized tomography, scan, X-rays, or an MRI, or magnetic resonance imaging. Periodic tests for lung function may be recommended, particularly as the individual ages.
1. Back pain
Those with Marfan’s often have flat feet, which can contribute to back pain. Weak connective tissue throughout the body fails to provide the support needed for proper posture, which can result in back pain. Those who have a concave chest may experience back pain due to the unnatural position this causes in the shoulder muscles; this affects the pelvic tilt, which can adversely affect the sciatic nerve and cause severe back pain.
A curved spine, which can be kyphosis or scoliosis, is often associated with Marfan’s and can cause pinched nerves and back pain. It can also distort the posture, which can exacerbate other back pain.
Some individuals can have an enlarged ducal membrane, which can cause back pain. The ducal membrane surrounds the brain and spinal cord.
2. Heart murmur
An enlarged aorta is a common symptom of Marfan’s and can be life threatening if left untreated. Mitral valve prolapse, or MVP, is also common among those with this disease. Although MVP isn’t fatal and rarely becomes life threatening, it places additional stress on the heart muscle, which is already compromised due to Marfan Syndrome. An unusual or extra sound heard during the regular heartbeat is called a heart murmur and can range from mild to more serious. MVP is considered more serious in children than in adults.
3. Blurred vision
A dislocated lens accounts for vision problems in about 60 percent of those with Marfan’s. This causes extreme myopia. In addition, many have an astigmatism. Early diagnosis can lead to the best outcome for long term visual acuity and can help reduce the worsening of the vision. Aging exacerbates the problem, so an early treatment regimen can provide the best vision for the longest amount of time.
4. Bulging chest
Since Marfan’s can inhibit normal development of the thoracic cavity, ribs may not develop properly. This may result in either a concave, or a sunken chest, or a convex, or bulging chest. When this occurs, the breastbone will be pushed outward. There is usually little to no pain associated with this sign of Marfan Syndrome.
5. Fatigue
Fatigue is a common symptom of those with Marfan Syndrome due to its adverse effects on the cardiovascular system. Although many prescription medications are available to treat the various symptoms of Marfan Syndrome, many of the medications have the side effect of fatigue, which exacerbates the issue. A healthy lifestyle, including diet and stress elimination, is the best antidote to Marfan-induced fatigue.
Those who have Marfan Syndrome shouldn’t smoke and pregnancies should be carefully planned and monitored. Eliminating stress can greatly reduce the need for blood pressure medications, which can exacerbate fatigue. Exercise can help with fatigue but should be undertaken only with a doctor’s supervision since the heart muscle is already taxed. Eating a healthy diet can help compensate for the fatigue but learning to listen to the body’s signals is vital to successfully living with the disease. Whether others agree is irrelevant; those with Marfan’s need to learn to pace themselves and not become overtaxed as this places an additional stress on the heart.
6. Double jointed
Those with Marfan’s frequently experience hypermobility in the hands and wrists, which may sometimes present as Ehlers-Danlos Syndrome, a connective tissue disorder related to Marfan’s. Since the limbs are very long and the ligaments are very loose and stretchy, those with either disease are likely to be double jointed. Medical treatment can alleviate some of the deleterious side effects of being double jointed and help maintain the integrity of the tissues involved.
7. Flat feet
Extra long feet and loose ligaments can cause flat feet in those who have Marfan’s. Although flat feet aren’t usually painful, they can cause knee pain. Sometimes, foot surgery can correct flat feet if they’re causing a problem.
Orthotics or shoe inserts are options to a surgical solution for those who have flat feet. Orthotics need to fit extremely well; otherwise, they can cause additional pain. Sometimes, exercise can help strengthen the muscles and tendons in flat feet and provide some relief. Shoes should fit well without binding or pinching.
Those who have Marfan Syndrome should wear a medical alert bracelet, particularly if they have heart issues.
