Abstract
Background Bertolotti syndrome describes a lumbosacral transitional vertebra (LSTV) which causes symptoms, usually low back pain. LATV is a congenital anomaly where the L5 vertebra has an unusual morphology. Bertolotti syndrome is an under-recognised condition by clinicians.
Objectives To clarify the presentation of Bertolotti syndrome, whether there are features of inflammatory back pain (IBP) and the effect on quality of life.
Methods In this pilot study, 62 patients with LSTV were identified on imaging (plain x-ray). Imaging was performed for a variety of indications, predominently for back pain. In total, 34 patients agreed to take part, with 18 returning questionnaires. Questionnaires were selected for face vailidity and included: Calin IBP Questionnaire, EQ-5D Questionnaire, Visual analogue pain scale (VAS-P). In view of Covid restrictions all contact was by phone and questionnaires were completed online or returned via post.
Plain X-rays visualising the lumbar spine were assessed for radiological features of LSTV.
Results Seventeen (94%) of the participants (n=18) recorded a VAS-P score >3, indicating a clinically significant level of pain. The mean VAS-P score was 6 (range of 2-9). 89% of respondents scored at least 3/5 in the Calin questionnaire. Of the 5 features of inflammatory back pain in the Calin questionnaire, 4 out of the 5 were reported by most respondents. The exception was ‘improvement on exercise’, which was only reported by 18% of respondents. Quality of life was impaired-EQ-5D (mean: 0.503, range -0.074 to 0.796).
The commonest radiological abnormality was enlarged transverse process (100%) followed by pseudoarticulation with the sacrum (83%) and scoliosis (33%). Presence of sclerosis and/or osteoarthritis at the pseudoarticulation was associated with worse pain scores. Female respondents reported worse pain.
Conclusion These results suggest Bertolotti syndrome is associated with pain in the majority of patients and affects quality of life,. The character and site of the pain suggests that Bertollotti syndrome should be considered in the differential diagnosis of spondyloarthritis.