Bertolotti syndrome is a rare condition that causes back pain due to fused vertebrae in the spine.The syndrome affects between four and eight per cent of the population but is often misdiagnosed or mistaken for joint or muscle pain, leaving patients in pain without the right treatment.

What is Bertolotti syndrome?

The syndrome is named after an Italian doctor who first discovered it in 1917 and is also known as ‘lumbosacral transitional vertebra’ (LSTV). The condition affects the ‘transverse processes’, which are small projections of bone at the bottom of each vertebra.

The transverse processes protrude from both sides of the vertebrae and attach to muscles and ligaments. Bertolotti syndrome occurs in the lower spine when the processes are larger than average and fuse naturally with other bones in the lower back. Over time, this causes wear and tear to the lower part of the spine and can result in significant pain for the patient.

Diagnosis of Bertolotti syndrome

Bertolotti syndrome is congenital, which means that patients are born with the condition. However, many remain symptomless for years and often do not start to experience pain until their twenties or thirties. Sometimes, an injury will be the catalyst for patients to start to notice pain in the lower back. Lower back pain is a very common complaint, particularly among people over 30, the majority of whom will not be suffering from Bertolotti syndrome or any other congenital complaint.

For these reasons, and because it is rare, Bertolotti syndrome is often not considered or diagnosed straightaway and many patients are told that they may have muscle pain, chronic joint pain or other spinal problems. These patients are frequently not offered appropriate investigations to confirm the diagnosis and provide treatment and so suffer both the pain from the syndrome and the anxiety of not knowing what is wrong for longer than is necessary.

If a patient is concerned that they may have Bertolotti syndrome, an x-ray of the spine will usually be able to confirm a diagnosis.

Can Bertolotti syndrome be treated?

Fortunately, Bertolotti syndrome can be treated once a diagnosis has been made. Patients may be offered steroid injections in the lower back and/or physiotherapy. Lifestyle changes can also help manage the pain caused by the syndrome.

If conservative treatment does not offer relief, surgical intervention can be successful, although this is usually used as a last resort.