Ahumada Laura, Alviz Antistio, Gonzalez Tulia, Gomez Guiomara
Pharmacology and Therapeutics Group, Faculty of Pharmaceutical Sciences, University of Cartagena, Cartagena, Colombia.
Faculty of Pharmaceutical Sciences, Master in Health Care Pharmacy, University of Cartagena, Cartagena, Colombia.
Intractable Rare Dis Res. 2025 May 31;14(2):122-127. doi: 10.5582/irdr.2025.01007.
Sickle cell disease (SCD) is an orphan and extremely rare condition in Colombia and worldwide. However, a significant number of cases were identified in San Basilio de Palenque, Bolívar, enabling a pharmacotherapeutic follow-up study. This population represents a genetic bottleneck with limited admixture, making it crucial for further genetic and clinical research. Despite being largely unexplored due to lack of awareness and state neglect, SCD persists in this community. This study aimed to characterize and follow up pharmacotherapeutically on patients with SCD and traits. An observational, cross-sectional analytical study was conducted in 20 patients, assessing sociodemographic factors, pharmacotherapeutic follow-up, and pharmaceutical interventions. Results showed that 75% of patients were female, and 40% were homozygous. The most commonly used medications included folic acid, analgesics (paracetamol, tramadol, naproxen, codeine, ibuprofen, morphine), L-glutamine, and enalapril. Pain from vaso-occlusive crises and hemolytic episodes was the main reason for analgesic use. Notably, 62% of homozygous patients were not receiving baseline treatment with hydroxycarbamide, increasing their risk of complications. Addressing this gap through pharmaceutical interventions was one of the study's key contributions. In conclusion, this research highlights the need for a multidisciplinary approach to optimize treatment and improve the quality of life of affected patients. Given its genetic significance, San Basilio de Palenque represents a unique setting for further studies on SCD.
镰状细胞病(SCD)在哥伦比亚乃至全球都是一种罕见病。然而,在玻利瓦尔省的圣巴西利奥·德帕伦克发现了大量病例,从而得以开展一项药物治疗随访研究。该人群代表了一个基因瓶颈,基因混合有限,这对进一步的基因和临床研究至关重要。尽管由于缺乏认识和国家忽视,该疾病在很大程度上未得到充分研究,但SCD在这个社区仍然存在。本研究旨在对SCD患者及其特征进行药物治疗方面的特征描述和随访。对20名患者进行了一项观察性横断面分析研究,评估社会人口学因素、药物治疗随访情况和药物干预措施。结果显示,75%的患者为女性,40%为纯合子。最常用的药物包括叶酸、镇痛药(对乙酰氨基酚、曲马多、萘普生、可待因、布洛芬、吗啡)、L - 谷氨酰胺和依那普利。血管闭塞性危机和溶血发作引起的疼痛是使用镇痛药的主要原因。值得注意的是,62%的纯合子患者未接受羟基脲的基线治疗,这增加了他们发生并发症的风险。通过药物干预来弥补这一差距是该研究的关键贡献之一。总之,本研究强调需要采取多学科方法来优化治疗并改善受影响患者的生活质量。鉴于其基因意义,圣巴西利奥·德帕伦克是进一步开展SCD研究的独特场所。