Molecular diagnosis of Borrelia bacteria for the diagnosis of Lyme disease

Introduction: Lyme borreliosis is the most common vector-borne disease in the temperate climate zone of Europe and the US, and its frequency is increasing. Serology is often negative in the early stage of Lyme borreliosis and cannot distinguish between active and past infection. Culture is cumbersome and not very sensitive, and polymerase chain reaction (PCR) for the diagnosis of Lyme borreliosis has been described over the last 20 years, with varying results. Areas covered: In this article, all of the major studies in which PCR has been used to diagnose Lyme borreliosis in humans are critically reviewed. However, this article does not include studies that consisted of fewer than 10 patients, nor does it include studies that have inadequate descriptions of the patient population. Expert opinion: There is a lack of standardized protocols, and preamplification procedures have not been standardized. Nested PCRs seem to perform best, but are prone to contamination. PCR on skin biopsies can be used to diagnose early Lyme borreliosis in patients with atypical forms of erythema migrans. PCR also has diagnostic potential in Lyme arthritis and early neuroborreliosis. Blood and urine should not used for PCR. For future development, preamplification procedures should be optimized using materials from experimentally infected animals. Multi-center studies should follow to evaluate these optimized tests. © 2011 Informa UK, Ltd.