Alkaptonuria represents one of the first recognized inborn errors of metabolism yet remains an understudied rare genetic disorder with profound implications for chronic pain management and quality of life. This review examines the genetic architecture, pathophysiological mechanisms, psychological burden, and social determinants influencing clinical outcomes in alkaptonuria, with particular attention to epidemiological patterns in Latina populations. Despite global prevalence estimates of 1 in 250,000 to 1 million individuals, certain populations demonstrate markedly elevated disease frequency, most notably in the Dominican Republic where prevalence approaches 1 in 19,000. Understanding these population-specific patterns illuminates both founder effects and potential gene-environment interactions that shape disease expression. The progressive nature of alkaptonuria-related arthropathy creates a substantial chronic pain burden beginning in the third decade of life, necessitating multidimensional approaches to care that address not only biomedical mechanisms but also psychological adaptation and social determinants of health access.