Bertolotti Syndrome (2024)

Continuing Education Activity

Bertolotti syndrome is a congenital disorder leading to back pain associated due to a lumbosacral transitional vertebra (LSTV). It most frequently occurs via an articulation of the L5 vertebra transverse process(es) with the sacrum, leading to irregular spinal mobility and pain. This disorder affects up to 8% of the population and must be accurately diagnosed to be managed appropriately. This activity describes the evaluation and treatment of Bertolotti syndrome and reviews the role of the interprofessional team in managing patients with this condition.

Objectives:

Describe the etiology of Bertolotti syndrome.
Explain the pathophysiology of lumbosacral transitional vertebrae and its association with low back pain.
Review the physical exam and imaging findings of patients with Bertolotti syndrome.
Outline the treatment considerations for patients with Bertolotti syndrome.

Access free multiple choice questions on this topic.

Introduction

Back pain associated with an anatomical variant of the lumbosacral junction was first described by Bertolotti in 1917.[1]Thus, low back pain in the presence of any lumbosacral transitional vertebra (LSTV) variant is termed “Bertolotti syndrome.” An LSTV is an aberrant articulation between the L5 vertebra and the sacrum. The most common type of LSTV is the enlargement of unilateral or bilateral L5 transverse processes with the fusion of one or more of those transverse processes to the sacrum.[2]

The sacrum is the base of the vertebral column and is responsible for distributing upper-body mass across the pelvis. However, the sacrum’s ability to properly distribute the weight of the upper body is affected when it is irregularly fused with L5. Consequently, the L5 transverse processes are larger than patients without an LSTV in order to facilitate load bearing across the smaller sacral surface area. This prevents motion at the L5-S1 junction and leads to increased motion above the affected joint.[2][3]

This increase in motion at anatomically normal vertebral levels leads to increased incidences of disc herniation and facet arthrosis.Ultimately, these anomalous connections between L5 and S1 lead to asymmetry of spinal movement and place greater stress on the preceding vertebral level, which is the suspected pain generator in most cases of Bertolotti syndrome.[2][3]

Etiology

The etiology of Bertolotti syndrome remains equivocal. There have been numerous reported instances of family members all suffering from lumbosacral transitional vertebrae,suggesting a possible underlying genetic component. The formation of an LSTV is thought to be associated, in part, with mutations in the HOX10/HOX11 genes. HOX genes, also known as homeobox genes, are responsible for the segmentation of the vertebral column into individual levels.[2][4]

Additionally, the formation of the lumbosacral junction is influenced by biomechanical factors, such as how an individual's body weight is transmitted across the SI joints.At this time, Bertolotti syndrome is considered to have a multifactorial etiology that requires further investigation.

Epidemiology

Theincidence of Bertolotti syndrome is reportedly between 4% to 8%within the general population.[1][5][6]However, the incidence of an LSTV is far greater, between 4% to 30%.[7][8]

Due to this discrepancy, many specialists believe Bertolotti syndrome has been vastly underdiagnosed. Despite this variability, the prevalence of an LSTV associated with pain is more thantwice as common in males than females.[2][8]

Additionally, sacralization of L5 has been shown to be more common in males, while lumbarization of the sacrum and the presence of an accessory articulation between L5 and S1 is more common in females.[2][8]

Pathophysiology

Due to the pathological structure and mobility of the lumbosacral junction in patients with Bertolotti syndrome, there are possibly several reasons why pain accompanies an LSTV.

One possiblecause of Bertolotti syndrome may arise from an abnormaliliolumbar ligament.[9]In a functionally normal anatomical spine, the iliolumbar ligament is partially responsible for stabilizing the spinal column. However, a recent study suggests that the iliolumbar ligament located on the side of the abnormal articulation in patients with Bertolotti syndrome is far underdevelopedcompared toits contralateral counterpart.[10]

Although the transitional articulation may appear to be the most salientsource of pain, other associated etiologies that may obfuscate the clinical picture may be discogenic pain and lumbar radiculopathy.There has been an identified association between the presence of an LSTV and disc herniations, as well as facet joint degeneration at the spinal level above the LSTV.[7]

The disc located directly above the transitional segment, likely L5-S1, has been commonly degenerated at far greater rates than the disc between the transitional vertebra and the sacrum.[7][11]

History and Physical

Athorough history can help to differentiateseveral possible etiologies of back pain. Patients with Bertolotti syndrome complain of back pain, which may be nonspecific, though other etiologiesfor pain may confound this. The patient must be specifically probed to determine whether they may be otherwise or adjunctively suffering from concomitant discogenic back pain, facet pain, sacroiliac pain, or radicular pain.

A full spine exam should be performed in patients suspected of having Bertolotti syndrome to rule out other syndromes such as lumbar spondylosis, degenerative disc disease, lumbar radiculopathy, and neurogenic claudication. Physical examination may reveal nonspecific tenderness or may also be focally tender to touch. They may also demonstrate a decreased range of motion in the office. Provocative maneuvers,reflexes, sensation, and muscle strength should be comprehensively evaluated to rule out other neurological causes of pain.[7]

Evaluation

Imaging is imperative for the accurate diagnosis of Bertolotti syndrome. Plain radiographsof the lumbar spine and pelvis can generally provide ample diagnostic information to show lumbosacral transitional vertebrae.[13]These are quick, relatively inexpensive, minimize radiation, and should be considered first-line imaging modalities. A Ferguson radiograph, which is an AP view of the lumbosacral junctionwith 30 degrees of cephalad angulation,may be particularly helpful.[14]

\Review of these radiographs may showenlargement of one or both L5 transverse processes, an apophysis of L5 that articulates with the sacrum, or both.The sacroiliac joints commonly appear normal on plain radiographs.[15]

Advanced imaging in the form of computed tomography (CT)can delineate the lumbosacral junction in greater detail than plain radiographs, especially in patients with greater body habitus, which may obscure the imaging.Osteophyte formation and the extent of fusionat the articulation site can be more carefully scrutinized on CT imaging. Magnetic resonance imaging (MRI) is useful for identifying other lumbar pathologies, including degenerative lumbar intervertebral discs along with disc herniations/annular tears/fissures, as well as areas of sites of neural stenosis.[13]

Aside from these added benefits of advanced imaging, CT and MRI can also help with vertebral numbering, which may not be apparent on plain radiographs and are critical for treatment planning.

There is noparticular laboratory workup that is crucial in the diagnosis of Bertolotti syndrome. However, labs may be considered to rule out other inflammatory or malignant processes. Additionally, if the patient is experiencing any degree of radicular symptoms,an electromyogram(EMG) of thelower extremities may be obtained to help diagnose lumbar radiculopathies versus peripheral neuropathies.

Treatment / Management

Initial management of Bertolotti syndrome should consist of conservative measures. Nonsteroidal anti-inflammatory drugs (NSAIDs) may provide significant relief, are low in cost, and are generally well tolerated.

Physical therapy (PT) may also be concomitantly recommended at the time of diagnosis, with treatments aimed to strengthen core musculature, improve spinal mobility, and provide other pain-minimizing modalities. If NSAIDs and PT fail to provide adequate relief, the patient may be recommended for injection therapy. Directed corticosteroid injections under fluoroscopic guidanceinto the abnormal articulation are highly effectivein providing pain relief and may lasttemporarily, if not indefinitely.[13][16]

Injection therapy has the added benefit of not only potentially providing therapeutic effects but can also aid in diagnosing a patient's pain generator and help guide definitive management.

Surgery is reserved for individuals who have failed these aforementioned conservative approaches. Resection of the enlarged transverse process involved in the LSTV, either unilateral or bilateral,can be an initial surgical option if the pseudo articulation has been determined to be the definitive etiology of pain.[16][17]

If instability is present at the L5-S1 segment, spinal fusion may be indicated. While fusion may provide long-lasting relief, this may also hasten adjacent segment degeneration. A decompressive operation may also be indicated if there is a symptomatic central canal or foraminal stenosis present. The pseudo articulation may facilitate osteophyte formation, which can also potentially be a source of extraforaminal stenosis.[16]

The precise surgical procedure offered to specific patients should be individualized to their symptomatology and unique radiographic findings.

Differential Diagnosis

Patients with Bertolotti syndrome most commonly present with nonspecific low back pain. Unfortunately, the differential diagnosis for low back painisquite broad, and many can be present simultaneously to cause a multifactorial etiology. Musculoskeletal, neurological, and oncological pathologies should be considered.[14]

Common causes of back pain include lumbar strains, degenerative disc disease, lumbar disc herniations, annular tears/fissures, lumbar facet arthropathy, facet cysts, Tarlov cysts, scoliosis, and sacroiliac joint pain.[18]

Meticulous history-taking and physical examination can help to exclude several of these other diagnoses.

When patients experience leg symptoms in addition to lower back pain, providers should also consider compressive lumbar pathologies, including lumbar stenosis/claudication and radiculopathy.[15][18]

These entities should be considered along with—and not necessarily exclusive of—Bertolotti syndrome, as lumbar stenosis/radiculopathy can present as back pain in their own right due to their own underlying etiologies. As such, itmay be quite common to have tandem reasons for back pain.

Neoplasticprocesses should also not be overlooked. Lower back pain unrelieved by conservative measures and in the presence of sudden weight loss/gain, intractable night pain, and otherwise unexplained should raise suspicion for a primary or malignant tumor of the lumbar spine/sacrum/pelvis.[19]

Prognosis

Bertolotti syndrome can causechronic back painin undiagnosed individuals. Conservative management, such as pharmacotherapy, physical therapy, and steroid injections, have been shown to have varyingbenefits and may provide temporary or potentially definitive relief.[16]

Those who exhaust these conservative measures and undergo surgical treatment tend to report an improvement in their quality of life butmay still have an incomplete resolution of symptoms.[20]

Ultimately, each patient should be approached independently and have their treatment tailored to their lifestyle and needs.

Complications

The LSTV of Bertolotti syndrome is a nidus for abnormal mobility and mechanics of the spine. Consequently, greater stress is typically dispersed onto the adjacent segments of motion. These increased forces that the adjacent segment experiences are at risk for accelerated disc and facet joint degeneration, arthrosis, and, ultimately, neural stenosis.[7]

The surgical treatments for Bertolotti syndromecarrytheir inherent risks. As with all surgical procedures, there is a risk of bleeding at the surgical site, infection, and the need for the patient to have future operations if the first was unsuccessful. These procedures also risk nerve injury due to the surgery’s proximity to the nerve root canal and the spinal cord.[17][21]

Although surgical complications are rare, it is imperative todiscuss these with thepatient.

Deterrence and Patient Education

Bertolotti syndrome is congenital. Deterrence is not possible, but early and frequent patient education may help patients avoid the sequelae of chronic pain. That is why the early and accurate diagnosis of this condition is critical.

Patients should be informed of any abnormal connections or anatomy within the spine as soon as it is identified and should be counseled on how that may affect their mobility and quality of life. They should also be counseled on the importance of maintaining their activity level and be given resources on preventative stretching and therapy to try and decrease any muscular strain secondary to the abnormal vertebral connection.

Enhancing Healthcare Team Outcomes

Numerous healthcare providers may participate in caring for a patient with Bertolotti syndrome. The first person to whom a patient speaks about chronic low back pain should keep the possibility of a lumbosacral transitional vertebra in mind when conducting a workup. This duty may fall on a primary care physician, a nurse practitioner, a physician's assistant, or a chiropractor. Their workup should include conservative but diagnostic measures, such as radiographic imaging, pharmacotherapy to relieve their pain, and the option to be referred to a pain management specialist if the condition persists.[18][22]

If the patient does meet with a pain management physician, the pain management physician must maintain an open line of communication with the patient's primary care provider so that there is a seamless transfer of diagnoses, test results, and treatment options. The pain management physician may conduct fluoroscopic guided injections for diagnostic or therapeutic purposes and prescribe a greater diversity of pain medications with close follow-up in mind.[22]

The patient may not see a pain management clinician but may instead see a surgeon to have definitive removal of their aberrant vertebral connection. The surgeon may suggest continued conservative treatment but may also recommend a surgical procedure to relieve the patient's pain and future risk for sequelae of the LSTV. The most important aspect of a patient's care with Bertolotti syndrome is communication between allmembers of the interprofessional healthcare team to ensure accurate diagnosis and optimal treatment.

Review Questions

References

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: Disclosure: Amanda Miller declares no relevant financial relationships with ineligible companies.
: Disclosure: Andrew Zhang declares no relevant financial relationships with ineligible companies.