Why Diagnosis is Often Missed
While this anatomical variation is well known in medical research, the diagnosis of Bertolotti Syndrome (BSy) is often missed due to the commonality of low back pain, and providers typically search for more common causes of low back pain, such as muscle strain, disc disease, sacroiliac dysfunction, spinal stenosis, and facet arthritis mainly because of an old outdated Castellvi Classification system that our health system has relied upon and in the last 40 years has never questioned resulting in most believing that LSTV does not cause pain which is so wrong on so many levels.
Reviews of the research have noted that many patients with Bertolotti Syndrome (BSy) have had their symptoms for years some decades prior to being diagnosed with a transitional vertebra. The lack of a definitive diagnosis for Bertolotti Syndrome (BSy) is primarily due to the fact that the symptomology associated with this syndrome is non-specific, and there are also multiple other lumbar and pelvic conditions that can produce similar symptoms.
For example, sufferers of radicular-type pain in their lower back, posterior hip, buttock or sacroiliac area could also come from a multitude of other causes; therefore, Bertolotti Syndrome (BSy) will not usually be included in the differential diagnosis until later in the study of non-specific spine injuries if at all, and at that point it would not be given any serious consideration as being part of the potential factor involved in that pain.
Inadequately performed imaging can lead to misdiagnosis. In the case of plain x-rays, they might not be ordered, or at best there may not be additional views taken that would be the most helpful to identify the transitional vertebra and/or the transitional vertebra might not be listed as a finding in the report.
Similarly on an MRI or CT where the study is being interpreted primarily for disc herniation or nerve compression (or some other common pathology), the finding of a transitional vertebra or transitional anatomy may be overlooked.
Additionally, with transitional anatomy, it can be difficult for radiologists and surgically trained professionals to identify the proper vertebral number(s), which will in turn lead to misdiagnosis of the pathoanatomy.
Low awareness is a major contributor to the underdiagnosis of Bertolotti Syndrome (BSy). Many providers are trained to view Bertolotti Syndrome(BSy) as a rare, disputed, or incidental finding, rather than as a potential diagnosis for selected patients who suffer from back pain. Therefore, patients with chronic low back pain (especially younger patients, whose symptoms do not fit the typical degenerative pattern) may not undergo routine workups for Bertolotti Syndrome (BSy).
Furthermore, there are variable diagnostic criteria and treatment pathways .In practice, correlating the findings from the imaging studies with the patient's symptoms and the response to targeted injections into the pseudoarticulation may be a necessary component of the diagnostic process.
If the diagnostic correlation is never established, the patient may continue to receive a diagnosis of “non-specific back pain.” To sum things up, Bertolotti Syndrome(BSy) frequently goes undiagnosed due to existing at the juncture of a frequently experienced symptom and a seldom utilized clinical perspective. It shares its symptomatology with various other types of back pain, there are times when its imaging can be neglected or disregarded, and there is no one definitive standard diagnostic method utilised universally.
Increasing awareness of the condition, carefully examining lumbosacral imaging, and utilising targeted diagnostic injection techniques would enhance the overall acknowledgement and consequently decrease the duration from onset of symptoms to diagnosis.