Genomic Disorders Surgical Management

Surgical Management of Genomic
Spine Disease

The surgical management of genomic spine disorders is a unique endeavor. The treatment of these entities involves a host of challenges which require a different mind set and different approach by the physicians and surgeons who encounter these patients. To begin with they need to understand the nature of the pathology. A primary challenge is to find radiologists and spine care professionals who even have a clue regarding the nature of genomic spinal disorders in general and Juvenile Discogenic Disease in particular. A patient can not expect intelligent treatment from a physician who is uninformed or ill-advised regarding the basic reasons for their disability.

The Editor's experience has confirmed that the great majority of genomic spine disorder patients can be effectively treated without surgery. In addition to the many standard treatment programs provided by physical therapists, chiropractors, osteopaths and physicians there are specialized treatment and continuing health maintenance programs which now exist for these patients. Programs which provide appropriate patient education as well as training in a number of important areas such as stabilization exercise, stretching and anti-gravitational spinal distraction. The key to success is that patients self-administer these programs on a lifetime daily basis.

When Surgery Becomes Necessary

The typical patient with underlying genomic disease such as juvenile discogenic disease comes to surgery when there is extensive spinal pathology accompanied by neurologic problems. The role of the spine surgeon should be to not only to effectively address the immediate problem but to also address impending disease and also to prevent creating more problems for the patient later on (i.e. extensive scar tissue, transitional syndromes, etc.) than those being solved initially. The challenge here is particularly great because none of the spinal discs are normal. It has been the Editor's experience that even those patients who have undergone previous multiple operations can be reasonably salvaged. The ones who typically can not be salvaged by additional primary surgery are often afflicted with conditions such as adhesive arachnoiditis where only implanted neurostimulators may be effective (if the patient is not on strong narcotic drugs).

As to health factors, it is essential that all patients with genomic spine disorders be non-smokers, this is particularly true of patients coming to surgery. Simply put, nicotine and carbon monoxide are poisons. The intervertebral disc because of its dependence on the diffusion of nutrients across the endplate is at higher risk than most other tissues to the toxic effects of nicotine and carbon monoxide. Particularly in JDD, because of the abnormal development of the endplate, producing an impaired nutritional status under normal conditions, this additional insult compounds the liabilities. Smokers are known to have a 3-4x higher incidence of disc degeneration. In smokers with JDD this risk is clearly much higher. If JDD patients, who are smokers, require surgery their risk factors for surgery failure are also significantly higher than in the normal population. Unless the need for surgery is urgent it is in the JDD patient's best interest to become a non-smoker (for a period of at least 3 months) prior to surgery.

The degenerative changes associated with genomic disorders gradually progress over time. Initially individuals may be asymptomatic or simply have nonspecific low back pain. It is often a minor incident which acts as the "straw that breaks the camel's back" to produce sudden onset of incapacitation from which the patient does not recover. It is important to recognize, however, that the great majority of genomic spine disorder patients, if highly motivated, can look forward to a basically normal and fully active lifestyle. Patients have even continued as be professional athletes (but invest a significant part of their day in preventive programs).

When these patients are subject to trauma, as in a motor vehicle accident, their disability is typically greater than would usually be the case because the resulting injury is greater.

The saggital MRI image on the left shows a classic case of JDD. The red line connects the congenital notochord cleft defects at each vertebral level. The patient is a 37 year old nursing assistant who injured her back assisting a client. Her complaint was only that of low back pain; she was neurologically intact on examination. After minimal physical therapy a five level 360^o fusion was recommended by a spine specialist. This patient chose, as an alternative to surgery, conservative care. She attended, a four day educational and instructional program which trained her to start a daily health maintenance program at home. She has done well with this and continues to do well 2 years after ill-advised surgery was recommended.

If You Are A Hammer...
"If you are a hammer all the rest of the world looks like a nail." To some surgeons, particularly those trained in treating scoliosis and deformity, the only treatment for a degenerated disc is fusion; and for multi-level disc degeneration multi-level fusion. This philosophy is, quite frankly, very disturbing. The film to the left is of a young patient with JDD who chose surgical treatment and a 5 level 360^o fusion with pedicle screw and rod instrumentation was performed (no other alternative was suggested). This patient continued to be disabled. There are few salvage surgery options open to a JDD patient such as this.

The three images above relate to a 51 year old with classic JDD who was told that he had "two herniated discs." The treatment primary treatment offered was a 2 level anterior interbody fusion with BAK cages. The patient did not improve and wasn't informed that being a one pack/ day smoker was compounding his problem.

The most common reason for a genomic spine disease patient to require surgery is nerve compression secondary to a disc herniation or spinal stenosis such as lateral spinal stenosis. In JDD patients the nature of the pathology being encountered by a surgeon is typically different from that which surgeons expect to encounter with a simple discectomy. In JDD patients the pathologic processes is chronic in nature and gradually progressive. Disc herniations are typically "hard" rather than being "soft" and associated with osteophytes reflecting the chronic segmental dysfunction. It may take only a miniscule progression in the pathologic process for the patient to become symptomatic. This represents a circumstance more akin to the "straw that breaks the camel's back" than the more normal surgical situation. Failure to accurately diagnose these conditions, with appropriate imaging studies, prior to surgery may lead to a succession of surgeries culminating in a "failed back surgery syndrome." The JDD patient is at high risk to becoming an unwilling participant on what has been termed the "surgical merry-go-round" of ill-advised operative procedures. As the following case illustrates that some patients do require repeat surgery. The difference is that repeat surgery may be necessary. It is important for patients to be aware of the fact that other, more rational surgical options may be open to them.

The images above relate the experience of a previously unoperated upon neurologically intact 45 year old male. After multiple injections and blocks which did not produce improvement the patient was referred to a neurosurgeon in general practice who obtained the MRI scan shown. Neither the radiologist or the neurosurgeon recognized the presence of a genomic disease process. The neurosurgeon's assessment is a classic example of "fuzzy" thinking ending in a totally inappropriate, and probably disabling, recommendation for three level fusion. This example is not unique and is evidence as to why board certification of spine surgeons is an important need in the medical community.

Steven Bemgreat dealt is a 36 year old ex-logger and heavy equipment operator (identified with permission). Between 1980 and 2000 this patient with known Juvenile Discogenic Disease required 7 decompressive procedures for the treatment of recurrent disc herniations and lateral spinal stenosis. The April, 1999 recurrent disc herniation at L5-S1 is shown with a red dot. The yellow dots indicate normal appearing perineural and epidural fat, instead of fibrosis, because of previous autogenous fat grafting. Recurring disc herniation and lateral spinal stenosis are not infrequently associated with JDD.

Fusion in JDD Patients
In genomic spine disease patients, because of the nature of the disease process, all of the intervertebral discs at birth are abnormal and become degenerated, to varying degrees, during life. A basic rule of performing a rigid ("hard") fusion is to make sure that the adjacent segments are normal so that the added stress can be tolerated and a "transitional syndrome" does not occur. In JDD all of of the adjacent segments are abnormal. Every degenerated segment has some degree of associated segmental dysfunction or even, segmental instability. JDD patients are the poorest candidates for fusion unless special consideration is brought to bear on the case.

George Ginther, is a 45 year old power company lineman (identified with permission), shown here 2 years after decompressive surgery and two level posterior interbody fusion utilizing titanium cages to treat segmental instability. The vertebral molding produced by JDD can be seen involving the lumbar vertebrae above the fusion. As an active and athletic individual this patient has practiced a daily self-administered health maintenance program consisting of stabilization and stretching exercises and anti-gravitational spinal distraction. As a conscientious and compliant individual his long-term outlook is a good one for continued high quality of life.

Gerald Ruprecht, is a 51 year old construction foreman (identified by permission), shown 1 year following spine surgery. In addition to having Juvenile Discogenic Disease, a congenitally small spinal canal, central and lateral spinal stenosis, Mr. Ruprecht also had a G1 isthmic spondylolisthesis at the L4-5 level. Twin Ray titanium cages (14mm X 21mm) were placed posteriorally with an anterior lie to achieve immediate segmental stability and to avoid spinal nerve compression. Dorso-lateral strut stabilizations were placed bilaterally from L3 to L4 and L5-S1 to protect these degenerated segments. By combining "hard" and "soft" fusions the likelihood of inordinate stress being transmitted to adjacent segments was reduced. Patient has been in a daily health maintenance program since surgery. He was functioning at a normal level of activity with good quality of life at his one year follow-up examination.

The "Mongo" Mind-Set

It is unfortunate to observe that genomic spine disease patients are frequently operated upon by well-intended, but misguided surgeons who have little real understanding of the true nature of genomic problems and employ the "Mongo" Mind-Set for their surgical management of the unfortunate patient. The continued occurrence of this phenomenon (see below) makes clear that the best protection available to patients is to be well-informed on subjects such as this and be in the driver's seat regarding their health care destiny.

The images above belong to a JDD patient whose primary treatment was a 2 level anterior interbody fusion with BAK titanium cages. Patient was not improved, it was evident that there was a radiolucency around the cages and the diagnosis of "pseudoarthosis" was made. The next step was to treat the pseudoarthrosis with a anterior interbody bone graft and 3 level posterior instrumented (TSRH) fusion. Following this the patient continued to be disabled with back pain and radicular symptoms secondary to lateral spinal stenosis which had not been addressed. There is no indication that the treating surgeons ever read, or understood, the radiologist's MRI scan diagnosis (shown below) prior to the first surgery. The primary management for this patient should have been effective non-surgical therapy.