The Marfan Syndrome: implications for rehabilitation.

At 7'2", it appeared that college freshman Robert Liburd was embarking on an unlimited future playing basketball. But before he could even suit up for his first game, doctors at Temple University pronounced his basketball career over. Robert Liburd has a life-threatening disorder which affects his cardiovascular system. Chris Weisheit came from Cologne, West Germany to play basketball for the University of Maryland, and was given the same verdict (Wilbon, M, 1985). These two men were lucky. Despite an appearance of excellent physical condition, two other athletes died suddenly from the same disorder (in 1984, Flo Hyman, Olympic volleyball player, died in the midst of a game; the autopsy revealed a ruptured aorta. In 1976, Chris Patton, University of Maryland basketball star died during practice when his weakened aorta burst) (Jauchem, 1986).

In his middle thirties, Ed Ramey presented an image of excellent health. His job as a mail carrier provided him with a constant source of exercise. He was surprised when he became nauseous during a dove hunt, and had to sit down and rest. Little did he know that while he was resting, his aorta was about to rupture. Doctors suspected a heart attack, but Ed's heart showed no irregularities (Garcia, 1984).

First grader John Hathaway reads at a fifth grade level, programs his own computer, and speaks knowledgeably about a condition that has affected him since birth. John's main concern is his vision. Due to a dislocated lens, objects appear distorted to him.

What is the common thread connecting these individuals? They all have a medical condition known as the Marfan syndrome. The Marfan syndrome is a relatively uncommon hereditary disorder which affects approximately 20,000 people in the United States, or one person in 10,000. It does not distinguish between men and women, race, or ethnic group (National Marfan Foundation, 1984). It is said to be more common than cystic fibrosis and hemophilia, and as common as sickle cell disease (Trump & Amihud, 1985). This syndrome, which affects connective tissue virtually throughout the body, and its associated medical problems have important implications for personnel in vocational and other rehabilitation professions.

What is Marfan Syndrome?

Marfan syndrome is named for a French pediatrician, Antoine Bernard-Jean Marfan, who recognized unusual clinical features in one of his 5-year-old patients in 1896. These features included scoliosis, long, thin extremities, and hypermobile joints, but did not include any ocular or cardiac abnormalities. It is possible that the child was not afflicted with the Marfan syndrome as we recognize it today (Cantwell, 1986). Skeletal features characteristic of the person with Marfan syndrome include: a very tall, slender, loose-jointed body with disproportionately long arms, legs and fingers, and often some scoliosis; a breastbone that protrudes (pigeon chest) or is concave; a long and narrow face, with a high roof of the mouth and crowded teeth; and an inversion of the ankles, especially the left one. These physical characteristics are often the first observable signs of the disorder and have led many to speculate that such notable figures as Abraham Lincoln and Paganini may have been among those who have had the Marfan syndrome.

Today it is thought that the syndrome results from a defect in the body's connective tissue - more specifically in collagen - the fibrous material providing support to the organs and body in general, and elasticity to the heart and blood vessels. Abnormalities of the heart, blood vessels, lungs, eyes, bones and ligaments can result from this defect (Cantwell, 1986).

Connective tissue is the most widely distributed of all body tissues. It includes not only tendons and ligaments, but also areolar tissue which connects other tissues and organs, adipose tissue which provides insulation, support and a reserve food supply, and cartilage which is found in many places in the body but most notably in articular structures such as vertebral disks. The definition of connective tissue also includes the bone itself and, in liquid form, blood (Thibodeau and Anthony, 1988).

Defective or weak connective tissue allows the skeletal system to grow to extremes in height and length but fails to provide the strength needed to adequately support it. This makes the individual with the Marfan syndrome susceptible to a number of potentially disabling skeletal disorders such as scoliosis and vertebral disk disorders. Problems with connective tissue are particularly dangerous for the heart and blood vessels, and these are nearly always affected by the syndrome. Mitral valve prolapse, resulting in regurgitation after each ventricular heartbeat, may cause a noticeable mumur and lead to a disabling impairment of normal functioning. This can create circumstances in which an individual is easily fatigued by normal exercise and must restrict activities to more sedentary ones.

Even more disabling and life-threatening is the possibility of aortic dilation. When blood is pumped forcefully into the aorta, particularly during rigorous exercise, the aorta widens so extensively that a tear appears in the inner and middle layers of the aortic wall, causing the layers to separate from each other and form a second channel through which blood can flow. The force exerted by the blood as it is pumped by the heart can eventually cause the outer layer of the aorta to rupture (Jauchem, 1986, p. 3-4).

Normal connective tissue allows the aorta to be elastic but firmly constructed, while the characteristic weakness of this tissue in a person with the Marfan syndrome places the individual in a perilous position. Blood may escape into the chest or abdomen through the ruptured aorta. The rupture may be so sudden and complete that it results in immediate death, as in the case of the two young athletes mentioned earlier. The aorta can be surgically repaired or strengthened to prevent such a disaster (Jauchem, 1986; Pyeritz, 1986), but many people with this serious condition go undiagnosed, according to Godfrey et al. (1990), and the Marfan syndrome is determined only by an autopsy.

Other common disorders associated with the Marfan syndrome include visual problems caused by weak connective tissue or lack of supportive tissue. Fifty percent of persons with the Marfan syndrome have an upward displacement of the lens of the eye (ectopic lens) due to the lack of supportive connective tissue (March of Dimes, 1985). This can result in severe visual impairment for the individual so affected. Nearsightedness, possibly resulting from scleral stretching, retinal detachment, and other ocular pathological conditions are commonly experienced by the Marfan client, with the most striking abnormality being "enlargement of the globe, presumably caused by scleral stretching" (Maumenee, 1981, p. 730).

Although not a common occurrence, sudden lung collapse is more frequently noted in persons with the Marfan syndrome than in the general public. Again, inadequate quality and quantity of supportive connective tissue is the primary causal factor.

Etiology

It is believed that the Marfan syndrome results from a single abnormal (mutant) gene which produces a weakened form of one of the proteins necessary for strong, resilient connective tissue. Recent research suggests that abnormalities of microfibrillar fibers, a component of the body's elastic fiber system, may be significantly related to the cause or origin of the syndrome (Godfrey et al., 1990). Genetic linkage studies are also being conducted to determine whether there is an underlying genetic basis for the Marfan syndrome, but results have been inconclusive (Schwartz et al., 1990). However, researchers in Finland are pursuing early evidence that the genetic defect causing Marfan syndrome is located on chromosome 15. Should the fibrillar gene turn out to be located on chromosome 15 also, this would strengthen the evidence that defects in that particular gene are responsible for the syndrome (The Houston Post, 1990).

It is thought that the abnormal gene is a dominant one, and usually inherited from a parent who is also affected; thus each offspring has an equal chance of inheriting the disorder (March of Dimes, 1985). However, in about 15 to 20 percent of cases, the mutant gene arises in an egg or sperm of an unaffected parent. Given these figures, it is reasonable to expect the number of people affected by the Marfan syndrome to continue to increase.

Diagnosis and Treatment

There is no single, conclusive diagnostic test for the Marfan syndrome; however, Cantwell (1986) suggests that a positive diagnosis be given for anyone demonstrating at least two of four major features: a positive family history, and the ocular, cardiovascular, and skeletal abnormalities described earlier. Features most indicative of the syndrome include ectopic lens, aortic dilation, severe kyphoscoliosis, and chest deformities. Less indicative features, described as soft manifestations by Cantwell (1986), "include myopia, mitral valve prolapse, tall stature, joint laxity, and arachnodactyly" (long fingers and thumbs). The primary laboratory test used to determine the Marfan syndrome is an echocardiogram. This test should be included in any diagnostic study where there is a positive family history of the syndrome or suggestive physical findings. Once the condition has been diagnosed, treatment of specific defects or patient complaints may be required, and regular medical examinations should be conducted to monitor the individual's condition. Marfan patients are usually advised to avoid strenuous exercise, contact sports, and lifting of heavy objects. Some medication may be required to maintain moderate blood pressure, prevent infections in damaged heart valves, or prevent clotting if artificial valves have been implanted. For example, antibiotic medication should be taken before and after dental work.

Functional Limitations of Marfan Syndrome

All possible symptoms and complications of the Marfan syndrome rarely appear together in one individual, but it is still necessary to consider more than one impairment or handicapping condition when weighing the functional implications the disorder may have for an individual. Defects and degeneration of the connective tissue with their resulting effects on the skeletal, cardiovascular, and ocular systems present numerous functional limitations. Without awareness and consideration of the complexity and progressive nature of the disorder, the rehabilitation worker may focus entirely upon a client's present limitations, ignoring the possibility of future complications. This is a very serious mistake.

The vertebral column of the back has seven cervical vertebrae, twelve thoracic vertebrae, five lumbar vertebrae, the sacrum and the coccyx. The stability and strength of these vertebrae is achieved by the long anterior longitudinal ligament in front of the vertebrae and the long posterior longitudinal ligament behind (Stolov & Clowers, 1981). Ligaments also attach the spinous and transverse processes, and are extremely important in stabilizing the spine. When these ligaments are weakened by the Marfan syndrome, an individual becomes extremely vulnerable to multiple herniated nucleus pulpoi, resulting in nerve root irritation. Both surgical and nonsurgical treatment techniques are used as in other disk disorders. However, one of the difficulties faced by some Marfan clients is the incapacity to develop the strength of recovery that is normally expected with back injuries because even though the muscles may be made stronger, the ligaments remain weak.

Even without serious disk disorders, persons with the Marfan syndrome may be subject to pain in the joints of the back and other locations. Weakness and progressive deterioration of the connective tissue allow the joints to become loose, function improperly, and be easily dislocated. When this occurs, nerves are chronically irritated; pain becomes a day-long phenomenon. Vocational planning must take into consideration the potential for back and joint injury resulting from physical stress on the job.

As mentioned earlier, the Marfan syndrome nearly always affects the heart and blood vessels. A damaged or weakened mitral valve may lead to significant functional limitations on the amount of exercise an individual is capable of performing without becoming fatigued, thus restricting vocational choices to sedentary activities. Even after surgery or other treatment, such activities as lifting, climbing, and carrying heavy objects are to be avoided. Certainly rigorous exercise or activities are contra-indicated.

While each person with the Marfan syndrome presents a unique situation, visual limitations are quite common. Typically, the individual will have difficulty with visual acuity as well as peripheral vision (due to detachment of the retina), and may even have blind spots within the remaining visual field. The dislocated or ectopic lens is a very common visual impairment for the Marfan client. The lens of the eye is a remarkable instrument. Muscles flex to thicken the lens and allow it to focus on nearby items, or relax to permit the lens to focus on distant items. When the supportive connective tissue holding the lens in place weakens, the lens slips from its location so that it does not stay directly behind the pupil. Thus the person only has partial sight through the lens, often resulting in diplopia or double vision. Corrective lenses are not able to compensate for this distortion.

It is not uncommon for the lens to detach completely, slipping from behind the pupil, requiring the use of an external lens. Unfortunately, corrective lenses are fixed focus lenses and unable to change shape like the natural lens of the eye. An individual with this problem will have difficulty with near vision because of the inflexibility of the corrective lenses.

If visual limitations have existed since birth, poor development of the macular area of the retina can occur. The client with these limitations will always have difficulty achieving clear near point vision and will try to compensate by holding items close to the eye. Magnification tends to help the person see at intermediate distances and, for this reason, telescopic lenses are often prescribed. Unfortunately, these lenses further restrict an already restricted field of peripheral vision.

In addition to the problems brought about by an ectopic lens, the peripheral vision may also become restricted if the Marfan client has a history of congenital or secondary glaucoma. The intraocular pressure caused by the interrupted flow of aqueous humor slowly damages the optic nerve resulting in progressive dysfunction of the retina. Initially the peripheral vision is affected, and the client will have difficulty with glare. With time, the visual impairments become even more severe.

Vocational Considerations

Much has been written about the psychological aspects of back injury and pain. Huneke (1982) observed a need for early rehabilitation intervention with clients suffering from low back pain to help reduce the chances of the pain becoming chronic, and cited psychological overlay, stress, and reinforcers of pain as factors with which the counselor must deal during job retraining and job placement. Since vertebral and joint pain is very prevalent among clients with Marfan syndrome, this factor must be taken into account when making job placement considerations. The rehabilitation counselor must be skilled in working with physical disabilities as well as emotional difficulties associated with chronic pain and depression.

Psychological stress can also play an important role in contributing to chronic pain. The counselor must explore job placement opportunities with an eye towards stress factors associated with various occupations. The environment may itself reinforce the pain since the client may receive increased attention from family, friends, and physicians. The counselor must move the client into employment as quickly as possible to receive reinforcement for working, not for pain.

The client with joint pain will probably be limited to sedentary jobs that involve occasional lifting of no more than 10 pounds, n strenuous activity, and do not require near or far constant visual acuity. Jobs requiring manipulation of small objects (such as small parts assembly) or dealing with written text or data for extended periods of time would be extremely difficult for the client.

Due to the Marfan client's visual difficulties, the work surface should be well lighted but free from glare. Special care should be taken to ensure that the assistive devices used for visual limitations do not place stress on the vertebral column. For example, one client was fitted with powerful head-borne magnifiers to enhance her severe myopic vision; this enabled her to work as a medical stenographer. However, within a relatively brief period of time, the weight of the magnifiers caused or aggravated multiple herniated disks in her cervical area.

A team approach is essential for successful vocational rehabilitation of the person with the Marfan syndrome. A rehabilitation counselor with a specialty case load in visual disabilities will be quite knowledgeable about eye problems yet may be at a loss regarding the Marfan client's many orthopedic and cardiovascular problems. Professionals who are knowledgeable about these other body systems may not be familiar with eye disorders. Therefore, the rehabilitation worker should consult other professionals to assure that the vocational choice made by the Marfan client is an appropriate one.

The rehabilitation counselor must further recognize that some of the Marfan client's limitations will be stable and others will not. For example, once the aorta has been surgically repaired, the counselor can expect cardiovascular limitations to be stable. The energy level and endurance of those with additional cardiovascular problems, however, may be somewhat limited. Visual limitations from the retinal detachments tend to be progressive; the connective tissue in the spinal column and joints in the arms and legs will continue to deteriorate. Because of the progressive nature of the Marfan syndrome in general, and of some of the limitations, it is also strongly suggested that once a client is employed, medical examinations be performed on a regular basis.

In seeking a job placement for the client with the Marfan syndrome, the counselor will need to work with potential employers to help them understand the client's variability of limitations. Education of the employer about the Marfan syndrome is extremely important. As one individual afflicted with the disorder wrote, "...if an employer ... is unaware of your health condition, the employer may notice all the time you take off for hospital visits, check-ups, and surgery, and conclude you are not a very good worker" (Trump & Amihud, 1985, p. 26).

Summary

An individual with the Marfan syndrome may have multiple limitations which will affect job placement considerations by the rehabilitation counselor. The counselor must be aware of the complexity progressive nature of the disorder, and the possible future functional limitations which may develop. Because a client with the Marfan syndrome may suffer from a variety of problems, including visual, cardiovascular, and skeletal difficulties, a team approach to vocational rehabilitation is recommended. The rehabilitation counselor must consult other professionals regarding those limitations not within his area of expertise in order to ensure that appropriate vocational decisions are made by the client and counselor. The counselor as well as the client must make employers aware of the Marfan syndrome as it relates to the workplace and job performance.

Note: Further information on the Marfan syndrome, including educational materials, instructional seminars, and support groups for persons with the Marfan syndrome and their families, may be obtained by writing the National Marfan Foundation, 382 Main Street, Port Washington, New York 11050.

References

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