The Orthopedic Manifestations of Congenital Insensitivity to Pain: A Population-based Study.

Abstract

Congenital insensitivity to pain (CIP) is an extremely rare condition in which there is a failure of the development of the afferent sensory nerves in the dorsal root ganglia resulting in indifference to painful stimuli. The associated orthopedic manifestations are various and often present a diagnostic quandary for the treating surgeon. This population study provides insight into the orthopedic manifestations and functional scores in patients with CIP, to guide prognosis and management. We retrospectively review and describe the orthopedic manifestations of all cases of CIP in Malta. All patients were then scored for upper and lower limb function using the abridged version of the Disability of Arm, Shoulder, and Hand score (QuickDASH) and the Lower Extremity Functional Score (LEFS). Nine patients were recruited in total. Mean age at the time of recruitment into this study was of 33.7 years (range 15-58). All patients were Caucasian of Maltese heritage. None had consanguineous parents. All patients had been diagnosed with the condition in childhood (mean age 8.9 years). In total, these patients had 6 long bone fractures, 1 vertebral fracture, 39 upper limb surgical procedures, 88 lower limb surgical procedures, and 7 major lower limb amputations. These are discussed in detail. The main QuickDASH score was 23.97. The main LEFS was 42.22. This paper is the first population-based study of this condition and one of the largest series with functional scores. A multidisciplinary approach is essential in managing these patients. The surgical treatment of these conditions is often difficult and protracted, and judicious and careful consideration to both the bony and soft tissues aspects of the management need to be taken into account, with functional limb amputation not necessarily being considered as a last resort.