These MRIs document a six year progression of degenerative changes in the spine of a 42 year old diagnosed with Juvenile Discogenic Disease (JDD). The red dots illustrate “high intensity zone” (HIZ) annular tears.
What then is degenerative disc disease? Everyone who has ambulated on the high gravity planet planet earth has degeneration of their discs which progresses with age. If this is the case Isn’t this process a part of being “normal”?
Yes, it is certainly part of “normal.” It is only when this normal process of degeneration leads to disability and associated incapacitation that it then becomes a disease.
The case above is an example of the genomic (genetic) disorder “juvenile discogenic disease” (JDD). JDD is clearly a congenital condition which usually, in early years, typically does not produce disability or incapacitation but, if left unrecognized and unaddressed by preventive programs will typically turn into a true disease entity later in life.
Shown to the left is the MRI of a 29 year old male who developed leg pain and partial foot drop due to nerve compression from two non-contained disc herniations shown here at L4-5 and L5-S1 levels. Because of the progression of neurologic deficit he required prompt surgical discectomies followed by a preventive spine program.
It has been observed by many of the leaders in the care spine community that the great majority (estimated to be 80%) of individuals ultimately requiring spine surgery have important underlying congenital conditions, which, if recognized early and provided with therapeutic prevention, typically do not result in disability or the need for surgery; JDD appears to be one of the most import and most common of all of these genomic entities.
Despite its clear definition there remains some confusion to exactly what constitutes a genomic spine disorder. The origin of this confusion appears to have been the description of osteochondrosis, an abnormality of children’s vertebral endplates originally described in 1920 by Danish surgeon Holger Werfel Scheuermann. His entity became known as “Scheuermann’s Disease.” “Disease” meaning an impairment of normal body function producing incapacitation and disability. Remarkably, “Scheuermann’s Disease” was labeled a “disease” even though it was usually unassociated with patient incapacitation or disability. In fact, the endplate changes, limited to the thoracic-lumbar transition were well recognized as a common (“normal”) finding on plain films in asymptomatic individuals. Even when “Scheuermann’s Disease” was symptomatic it was usually only associated with minor back pain (clearly not a true “disease“).
Due in part to Dr. Scheurermann’s findings part of the present problem is that the term “disease” continues to be misused, particularly when applied to the spine. JDD should really be termed “juvenile discogenic incipient disease.”
In all fairness, by the time the patient presents with this condition, and by the time it is actually recognized by the radiologist or clinician (very few of whom have a clue about JDD at this time) JDD has typically become a full-blown disease in the true sense. Why is there so little understanding about JDD among the public and medical profession? Well, the medical field doesn’t always pay attention to important advances in information as the classic case of Semmelweis clearly illustrates. Maybe indifference or ignorance also play an important role. The key observation is that “incipient” does not have to become a reality. It can be thwarted. All one needs is the realization that there is a swinging “red lantern” in front of them. What one does about this is another matter entirely.
In 1994 Kenneth Heithoff, and associates, published the first paper on JDD (Heithoff KH et al: Juvenile Discogenic Disease, Spine 19:3, pp. 335-340, 1994). Today the condition is also referred to as “Thoraco-lumbar Scheuermann’s Disease” by some. In essence the Heithoff group initially found that 9% of the patients being referred for lumbar MRI s had evidence of JDD. The Burton Experience has been that actual incidence appears to be closer to 20-40% of those presenting with back pain problems. The Burton Experience also agrees with the observations that a small percentage of back pain patients continue to account for the great majority of money spent in our health care system for all spine care and that the great majority of all adults coming to spinal surgery have JDD or similar genomic conditions, which, if they had been appropriately addressed by therapeutic prevention (something else not well understood by the medical community), would probably not have required surgery at all.
In specific reference to JDD its primary etiology appears to be that of failure of normal spine development early in the fetal process of differentiation. The failure of embryologic vascular channels, centrum defects, and notochord clefts to normally disappear leave defects which decrease the area of normal endplate available to provide nutrition to the discs by diffusion and convection. This “failure to thrive” produces early degeneration, segmental dysfunction, and associated pathology in the facet joints which can lead to incapacitation and disability later in life depending on many factors. From the Editor’s standpoint chronic cigarette smoking appears to be the single most important factor. As has been pointed out in a leading British medial journal smoking “rots” the spine. The combination of JDD associated with chronic cigarette smoking creates a “perfect storm” of adversity for one’s spine.
The most important task, in regard to all genomic spine disorders, is to promote awareness. This is particularly important in young individuals because early identification, by screening, can then then allow these individuals insight into their future spine health liabilities. With this awareness it then allows these persons to seek presently existing reasonable and cost-effective therapeutic and preventive health maintenance programs. Today the most effective screening is radiologic (typically non-invasive MRI, not myelography) tomorrow it may be as simple as a swab of the inner cheek for genetic testing. The most important message is that early intervention, when the body is still fairly plastic, is effective. What is the value of increased life-expectancy if quality of life is destroyed by spine related disabilities?