What is Bertolotti Syndrome?
Bertolotti syndrome is a condition related to back pain, which was first defined by Bertolotti in 1917. It’s linked to a different shape of the lumbosacral junction, an area where the lower part of the spine (the lumbar spine) connects to the sacrum (the bone right above the tailbone). In people with Bertolotti syndrome, there’s an abnormal connection between the fifth lumbar vertebral bone (L5) and the sacrum.
The sacrum is the foundation of the spine and its role is to spread the weight of the upper body across the pelvis. Yet, when it is wrongly connected to the L5, its ability to do this task properly is impacted. As a result, the L5’s side segments, known as transverse processes, are larger than in people who don’t have this condition. This is to help bear weight across a smaller sacral surface area, limiting movement at the L5-S1 junction (the point where the L5 connects to the sacrum), and leading to more movement above the faulty joint.
This extra movement at typically normal spinal levels can lead to more instances of disc herniation (when the cushioning disc between your vertebrae slips out of place) and facet arthrosis (joint wear and tear). At the end of the day, these unusual connections between L5 and S1 cause irregular spinal movements and put more strain on the preceding spinal level. This is believed to be the main source of pain in most cases of Bertolotti syndrome.
What Causes Bertolotti Syndrome?
The exact cause of Bertolotti syndrome remains a bit of a mystery. However, there have been many cases of this condition within the same family, suggesting that genetics may play a role. In more scientific terms, there’s some evidence linking the condition to changes in specific genes, known as HOX10/HOX11 genes, which are responsible for forming the different layers of our spine.
Bertolotti syndrome is also thought to be influenced by physical factors, such as how a person’s body weight is distributed across the sacroiliac joints — the joints found at the very bottom of your spine, connecting it with the pelvis.
To put it simply, Bertolotti syndrome is believed to have many different factors contributing to its occurrence, and further research is needed to fully understand its causes.
Risk Factors and Frequency for Bertolotti Syndrome
Bertolotti syndrome is a condition that affects between 4% to 8% of the general population. Yet, some medical professionals believe that it is often underdiagnosed. A related condition, known as Lumbar sacral transitional vertebrae (LSTV), is more prevalent, affecting 4% to 30% of people.
Interestingly, both conditions affect genders differently. The LSTV condition associated with pain appears twice as often in males than females. Similarly, the sacralization of L5, or the blending of the fifth lumbar vertebra with the sacrum, tends to occur more in males. Comparatively, lumbarization of the sacrum, or the splitting of the sacrum into lower lumbar vertebrae, and the existence of an extra joint between the fifth lumbar vertebra and first sacral vertebra (L5 and S1), is seen more frequently in females.
Signs and Symptoms of Bertolotti Syndrome
Understanding the causes of back pain often involves a careful review of the patient’s medical history. In some cases, the patient might be experiencing Bertolotti syndrome, a condition that typically causes back pain, although the symptoms can also be triggered by other things, making it hard to pinpoint. To help figure this out, doctors often ask specific questions to determine if the person might also be dealing with other types of back pain, like discogenic back pain, facet pain, sacroiliac pain or radicular pain.
If Bertolotti syndrome is suspected, a complete spine exam would be done to rule out other conditions, such as lumbar spondylosis, degenerative disc disease, lumbar radiculopathy, and neurogenic claudication. Physical check-up might show general tenderness or specific tender spots upon touch. It might also show a decreased range of movement. Additionally, the doctor will test reflexes, sensation, and muscle strength to make sure there isn’t another neurological cause for the pain.
Testing for Bertolotti Syndrome
Imaging or taking detailed pictures of the inside of your body is a key part in correctly diagnosing Bertolotti syndrome. The first step is usually plain x-rays of the lower part of your spine (lumbar spine) and pelvis. These x-rays are quick, relatively affordable, and limit exposure to radiation. A specific type of x-ray, known as a Ferguson view, can be particularly helpful. This x-ray is taken from the front (anterior-posterior view) of the point where your spine and hip bone meet (lumbosacral junction) at an upward (cephalad) angle of 30 degrees.
In these x-rays, you may find that one or both of the parts of the fifth vertebrae in the lower back (L5 transverse processes) are larger than usual, that the fifth vertebrae (L5) is fused with (articulates with) the sacrum, or both. It’s typical for the joints that connect the sacrum and ilium (sacroiliac joints) to appear normal in regular x-rays.
For a more detailed view of the lower part of your spine, a computed tomography (CT) scan could be recommended. This type of imaging is beneficial, especially for those with a higher body mass since their size can make proper imaging tricky. A CT scan can help explore any abnormal bone growth (osteophyte formation) and the extent to which the lower back and hip bone are fused at the point of contact (articulation site).
Magnetic resonance imaging (MRI) can be really helpful in identifying other conditions that can affect the lower spine. This can include conditions like worn out or damaged spinal discs (degenerative lumbar intervertebral discs), disc herniations, tears in the outer part of spinal discs (annular tears), splitting (fissures), as well as narrowing spaces within the spinal cord (neural stenosis).
CT and MRI are not only useful for showing extra detail, they also help with numbering the vertebrae. This can be critical for planning a treatment procedure if necessary.
Diagnosing Bertolotti syndrome doesn’t hinge on any particular lab tests. But, the doctor may consider lab work to rule out other conditions such as inflammation or cancer. If you are having any symptoms like pain, tingling, or weakness branching out from your lower back (radicular symptoms), an electromyogram (EMG) might be done. This test measures electrical activity from your muscles and nerves and could help identify nerve damage in your lower back (lumbar radiculopathies) versus nerve damage outside of your spine (peripheral neuropathies).
Treatment Options for Bertolotti Syndrome
The first step in treating Bertolotti syndrome usually includes easy-to-follow steps. The use of pain relievers, known as Nonsteroidal anti-inflammatory drugs (NSAIDs), are often effective, affordable, and generally tolerated by most people.
Complementing this, physical therapy is also often encouraged right after diagnosis. The aims of this therapy are to make the main body muscles stronger, enhance the mobility of the spine, and use other techniques to reduce pain. If pain relief hasn’t been achieved with NSAIDs and physical therapy, patients may then be suggested for an injection therapy. This therapy involves injecting corticosteroids, under image guidance, directly into the abnormal joint. These injections can significantly reduce pain and the relief could last temporarily or even permanently.
Not just helpful in relieving the pain, injection therapy can also assist in identifying the exact cause of a patient’s pain and helping to determine the appropriate treatment plan.
Surgery is considered as a last option only if the above-mentioned treatments don’t work. The initial surgical procedure can involve the removal of the enlarged part of the bone that participates in the spinal abnormality. This option is used if the false joint has been confirmed as the definite cause of pain.
If there is instability found at the lower spine, a surgery known as spinal fusion might be needed. While this surgery can provide long-lasting relief, it also has the potential to increase the wear and tear of the adjacent spinal segments. If a narrowing of the spinal canal causing symptoms is identified, a decompression surgery may also be an option. The pseudo joint has the possibility of fostering bone spur formation, which can be the cause of extra narrowing.
In conclusion, the surgical procedure to be used will be determined on a case-to-case basis, considering the patient’s specific symptoms and distinct medical imaging findings.
What else can Bertolotti Syndrome be?
People with Bertolotti syndrome often suffer from general lower back pain. However, low back pain can indicate a variety of different conditions, making a diagnosis complicated. Conditions that can cause back pain might be related to muscles, nerves, or even cancer, and often, more than one of these may contribute to the pain.
Typical causes of back pain are:
- Strains in the lower back
- Degenerative disc disease
- Herniated lumbar discs
- Tears or cracks in the outer layer of spine discs
- Arthritis-like condition in the joints connected to the spine’s vertebrae
- Facet joint cysts
- Tarlov cysts
- Scoliosis
- Pain in the sacroiliac joint, which connects the spine to the pelvis
A thorough medical history and physical exam can aid in ruling out many of these possibilities. If patients also complain about pain in the legs, doctors might look into conditions that affect the spinal nerves, like lumbar stenosis (narrowing of the spinal canal) and radiculopathy (compressed or irritated nerve in the spine).
Also, physicians should keep in mind that patients can have more than one condition causing their back pain. For instance, they could have both Bertolotti syndrome and lumbar stenosis. Furthermore, cancer should also be taken into account. If a patient complains about persistent lower back pain that isn’t improving despite treatment, and is coupled with unexplained weight loss or night pain, doctors may suspect a tumor in the lower back or pelvic region. If they discover a tumor with the help of imaging tests and lab results, the patient should be referred promptly for cancer treatments.
What to expect with Bertolotti Syndrome
Bertolotti syndrome can lead to chronic back pain in people who haven’t been diagnosed with it. Treatments that don’t involve surgery, like taking medication, physical therapy, and steroid injections, can sometimes help. They may offer temporary, or even possibly long-term, relief from the pain.
Last-resort treatments involve surgery. People who seek this route often say that their quality of life improves, but they might not experience a complete disappearance of symptoms.
Ultimately, each patient is unique. Treatment plans should be personalized to fit their lifestyle and specific needs.
Possible Complications When Diagnosed with Bertolotti Syndrome
In Bertolotti syndrome, a condition known as LSTV can cause abnormal motion and structure in the spine. This typically puts more stress onto nearby parts of the spine. Over time, due to this increased pressure, the adjacent spinal segments can wear down more quickly, leading to issues such as worn out discs, worn out facet joints, joint disease, and ultimately, neural narrowing.
Doing surgery to treat Bertolotti syndrome isn’t without risks. As with all surgery, there could be bleeding at the surgical site, infection, and the possibility that future surgeries might be needed if the first one doesn’t work. It’s also possible to injure a nerve during surgery because the operation takes place near the root of nerves and the spinal cord.
Despite surgical complications being rare, it’s very important that these risks are discussed with the patient before the procedure.
Potential Risks of Surgery:
- Bleeding at the surgical site
- Infection
- Need for future operations
- Nerve injury
Preventing Bertolotti Syndrome
Bertolotti syndrome is a condition that a person is born with. Because it’s present at birth, we can’t prevent it. However, making sure patients understand the condition from the early stages can help them avoid the long-term issue of chronic pain. This is why it’s crucial to detect and diagnose Bertolotti syndrome as soon as possible.
If a patient has an unusual structure or connection in the spine, which is common with this condition, they need to be made aware of it as soon as it’s discovered. It’s also important that they understand how this may affect their ability to move around and their general well-being. They should be advised on the significance of staying active, and given information on how to perform preventative stretching and therapy. These methods can help reduce any muscle strain related to the abnormal connection in the spine.
