Battling Bertolotti Syndrome: What You Need to Know

Bertolotti syndrome might not be a usual suspect in lower back pain, but diagnostic detective work can uncover this common congenital condition.

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Back pain is something many adults experience at some point. In fact, almost two-thirds of the population will develop low back pain (LBP) in their lifetime, and over half will develop chronic LBP—back pain that lasts more than six months.

Bertolotti syndromeBertolotti syndrome affects the lumbosacral spine

Since the cause of LBP is often not specific, pinpointing a reason your back hurts can be an exercise in detective work requiring X-rays and sometimes even MRIs. Those tests might ID a lesser-known cause of mechanical LBP called Bertolotti syndrome.

What Is Bertolotti Syndrome?

Italian physician Mario Bertolotti lent his name to this congenital, common condition. It’s found—with or without lower back pain—in 10 to 20 percent of the population.

Bertolotti syndrome occurs when the last lumbar vertebra—the lumbosacral transitional vertebra, or LSTV—and the sacrum either fuse or create a false joint thanks to an enlarged transverse process (bony bumps on the vertebrae where muscles and ligaments attach) on the LSTV.

When a fusion of the LSTV and sacrum (called sacralization) or pseudo-joint doesn’t hurt—and many don’t—it’s just a feature of your anatomy, present since birth. It’s only when it causes LBP that you’d call it Bertolotti syndrome—and try to seek relief from it.  

Transverse processBertolotti syndrome can cause a pseudojoint due to enlarged transverse processes

What Causes Bertolotti Syndrome?

Bertolotti syndrome can result in LBP in a number of situations that lead to inflammation and reactive muscle spasm. Here are some ways. 

  • An asymmetry in the structures of the lumbar vertebrae if the LSTV is fused to the sacrum and iliac bone (the “wings” of the pelvic bone) can stress the sacroiliac joint, which might cause pain you’d feel above your buttocks.
  • A pseudo-joint won’t have the cushion or lubrication between the bones that other joints in the body have to help absorb shock. This causes painful bone-on-bone grinding, which can lead to osteoarthritis. It may also cause increased stress on the discs of the pseudo-joint.
  • Sacralization might decrease your spine’s mobility, speeding up the wear and tear of the vertebrae and shock-absorbing intravertebral discs above this area.
  • Unequal forces on the surrounding muscle tissue due to the spine not being aligned properly can cause muscle imbalances and fatigue. Although both sides of the back can be affected, tightness and spasms in the lower back and/or pelvis typically only appear on one side.

Lumbosacral spineLumbosacral variations show up on X-rays

What Are the Symptoms of Bertolotti Syndrome?

Most people would never know they had a sacralization or pseudo-joint unless it’s found accidentally during an X-ray for something unrelated. But for those cases that do cause symptoms, they can vary greatly from person to person and will usually appear in adulthood—in your 20s or 30s.

Symptoms can include:

  • Localized LBP that does NOT radiate down the legs
  • Possible pain or discomfort in the area of the sacroiliac joint
  • Unexplained stiffness or difficulty moving in certain ways with pain
  • Improved symptoms with sitting and laying

How Is Bertolotti Syndrome Diagnosed?

Bertolotti syndrome can be diagnosed based upon a good medical history, a thorough physical exam and X-rays. The physical exam will include recreating the movements that trigger pain or discomfort. Then, an X-ray of the lower back and pelvis can reveal any bony anatomy abnormalities.

How Is Bertolotti Syndrome Treated?

In most situations, Bertolotti syndrome is effectively managed with non- or minimally invasive treatments. These can include:

  • Lifestyle modifications to ease the strain on the affected parts of the spine such as repetitive rotation and extension.
  • Over the counter (OTC) pain medication, such as Aleve®, Advil®, or Tylenol®.
  • Physical therapy to help build certain areas up and potentially increase mobility.
  • Local anesthetic and occasionally corticosteroid injections under fluoroscopic guidance for along the affected nerves or directly into the pseudoarthrosis  to reduce inflammation. Fluoroscopy can also be used for diagnosis.
  • Platelet-rich plasma (PRP) therapy that uses the body’s platelets to reduce pain and inflammation and healing in damaged joints via an injection with fluoroscopic guidance. This avoids the negative effects of corticosteroids such as increasing blood sugar levels and reducing healing. These treatments have not been well-studied for Bertolotti Syndrome and are not covered by insurance.
  • Prolotherapy, an alternative treatment that uses a combination of concentrated local anesthetic and dextrose that is injected into the affected area to potentially enhance the body’s natural healing ability.
  • Radiofrequency ablation, a technique that uses heat to deaden the affected nerves around a pseudo-joint. This treatment has not been well-validated in the treatment of Bertolotti syndrome and requires that the patient have a significant relief of pain for a period of time with an anesthetic injection.

Surgery is usually a last resort to treat this condition and is typically performed to eliminate a pseudo-joint. Surgery can take the form of reducing or removing the elongated transverse process. This is generally performed as a same day procedure. Be warned that there’s not a lot of high-quality evidence that surgery effectively treats Bertolotti Syndrome.

Idiopathic back pain? See if it’s Bertolotti syndrome. Find a spine specialist near you who can help.

Updated on: 05/12/20
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