A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease.

Autor: Rodríguez-Blanque R; San Cecilio University Hospital, 18071 Granada, Spain.; Department of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain., Nielsen LM; Department of Nursing and Podiatry, Faculty of Health Sciences, University of Malaga-Teatinos, Arquitecto Francisco Peñalosa 3, 29071 Malaga, Spain., Piqueras-Sola B; Virgen de las Nieves, University Hospital, 18014 Granada, Spain., Sánchez-García JC; Department of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain., Cortés-Martín C; Department of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain., Reinoso-Cobo A; Department of Nursing and Podiatry, Faculty of Health Sciences, University of Malaga-Teatinos, Arquitecto Francisco Peñalosa 3, 29071 Malaga, Spain., Cortés-Martín J; Department of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain.
Jazyk: angličtina
Zdroj: Journal of personalized medicine [J Pers Med] 2024 May 26; Vol. 14 (6). Date of Electronic Publication: 2024 May 26.
DOI: 10.3390/jpm14060570
Abstrakt: 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.
Databáze: MEDLINE