Laura Ahumada, Antistio Alviz, Tulia Gonzalez, Guiomara Gomez
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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.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"14 2","pages":"122-127"},"PeriodicalIF":1.6000,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143213/pdf/","citationCount":"0","resultStr":"{\"title\":\"Evaluation of pharmacotherapy in sickle cell disease in an Afro- Colombian community: A cross-sectional analytical study in San Basilio de Palenque, Bolívar.\",\"authors\":\"Laura Ahumada, Antistio Alviz, Tulia Gonzalez, Guiomara Gomez\",\"doi\":\"10.5582/irdr.2025.01007\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Sickle cell disease (SCD) is an orphan and extremely rare condition in Colombia and worldwide. 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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. 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引用次数: 0
摘要
镰状细胞病(SCD)在哥伦比亚和全世界都是一种罕见的孤儿病。然而,在San Basilio de Palenque (Bolívar)发现了大量病例,从而进行了药物治疗随访研究。这个群体代表了一个遗传瓶颈,有限的混合,使其对进一步的遗传和临床研究至关重要。尽管由于缺乏意识和国家的忽视,SCD在很大程度上尚未被开发,但它仍然存在于这个社区。本研究旨在对SCD患者及其特征进行表征和药物治疗随访。对20例患者进行了一项观察性横断面分析研究,评估了社会人口学因素、药物治疗随访和药物干预。结果: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(扑热息痛、曲马多、萘普生、可待因、布洛芬、吗啡)、l -谷氨酰胺和依那普利。血管闭塞危象和溶血发作引起的疼痛是使用止痛剂的主要原因。值得注意的是,62%的纯合子患者没有接受羟脲的基线治疗,这增加了他们发生并发症的风险。通过药物干预解决这一差距是该研究的主要贡献之一。总之,本研究强调需要多学科的方法来优化治疗和改善患者的生活质量。鉴于其遗传意义,圣巴西利奥德帕伦克为SCD的进一步研究提供了独特的环境。
Evaluation of pharmacotherapy in sickle cell disease in an Afro- Colombian community: A cross-sectional analytical study in San Basilio de Palenque, Bolívar.
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.