A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease Rodríguez Blanque, Raquel Nielsen, Laura Maria Piqueras Sola, Beatriz Sánchez García, Juan Carlos Cortés Martín, Celia Reinoso Cobo, Andres Cortés Martín, Jonathan Pain insensitivity congenital Rare disease Congenital insensitivity to pain with anhidrosis (CIPA) Introduction: Pain perception, far from being a pathological mechanism, is a crucial protective stimulus to prevent additional injuries. Any disturbance in this complex system poses significant risks to individuals, affecting their quality of life and even their survival. Objective: This review aims to explore congenital insensitivity to pain, an extremely rare genetic disorder with an autosomal recessive pattern that results in the inability to perceive pain. We will focus on the well-known subtype, congenital insensitivity to pain with anhidrosis (CIPA). Our research seeks to update existing knowledge through a comprehensive literature review. Methodology: The review employs a systematic literature review, analyzing various sources and scientific documents, primarily emphasizing CIPA. The review follows the PROSPERO protocol, registered under CRD42023394489. The literature search was performed on the Scopus, PubMed, and Cinahl databases. Results: Our review reveals secondary complications associated with CIPA, such as recurrent bone fractures, temperature insensitivity, self-mutilation, and, occasionally, intellectual disabilities. The limited available information underscores the need for expanding our knowledge. Conclusions: In summary, CIPA, particularly, presents a significant medical challenge with adverse impacts on quality of life. Early diagnosis, education for families and healthcare professionals, and appropriate nursing care are essential for effective management. This review highlights the necessity of further research and awareness to enhance support for those affected. 2024-07-30T11:21:39Z 2024-07-30T11:21:39Z 2024-05-26 journal article Rodríguez-Blanque, R.; Nielsen, L.M.; Piqueras-Sola, B.; Sánchez-García, J.C.; Cortés-Martín, C.; Reinoso-Cobo, A.; Cortés-Martín, J. A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease. J. Pers. Med. 2024, 14, 570. https://doi.org/10.3390/jpm14060570 https://hdl.handle.net/10481/93655 10.3390/jpm14060570 eng http://creativecommons.org/licenses/by/4.0/ open access Atribución 4.0 Internacional MDPI