Stepien Karolina M, Braunlin Elizabeth A
Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, United Kingdom.
Department of Pediatrics, University of Minneapolis, Minneapolis, MN, United States.
Front Cardiovasc Med. 2022 Jun 10;9:907175. doi: 10.3389/fcvm.2022.907175. eCollection 2022.
The Mucopolysaccharidoses (MPSs) are a group of heterogenous disorders with complex multisystemic presentations. Although Haematopoietic Cell Transplantation (HCT) and Enzyme Replacement Therapy (ERT) have extended the lifespan of individuals affected with MPS well into adulthood, reversal of pre-existing cardiac, skeletal and neurocognitive deficits does not occur, so there are no truly curative treatments available to these patients at present. The medical and surgical management of cardiovascular problems in adults with MPS is complicated by these pre-existing comorbidities, requiring the involvement of multidisciplinary and multispecialty perioperative teams. This review sets out to describe the unmet cardiac needs in adults with MPS disorders including the lack of effective treatments, monitoring guidelines, and the challenges regarding expertise and training, and psychosocial support.
黏多糖贮积症（MPSs）是一组具有复杂多系统表现的异质性疾病。尽管造血细胞移植（HCT）和酶替代疗法（ERT）已将受MPS影响个体的寿命延长至成年期，但先前存在的心脏、骨骼和神经认知缺陷并未得到逆转，因此目前这些患者尚无真正的治愈性治疗方法。患有MPS的成年人心血管问题的药物和手术管理因这些先前存在的合并症而变得复杂，需要多学科和多专业围手术期团队的参与。本综述旨在描述患有MPS疾病的成年人未满足的心脏需求，包括缺乏有效治疗、监测指南，以及专业知识和培训方面的挑战，还有心理社会支持。
