An Overview of Enzyme Replacement Therapy for Lysosomal Storage Diseases

Abstract

The lysosomal storage diseases (LSDs) are a group of disorders heralding in a new era in the treatment of genetic diseases. Enzyme replacement therapy (ERT) moves the treatment of these disorders from symptomatic management to therapeutic interventions. ERT is not a cure for these disorders, but it can greatly modify or attenuate the phenotype. Treatment for LSDs is lifelong and the diseases affect multiple organ systems. It is possible that nurses in almost every specialty will encounter a patient with one of these conditions. Therefore knowledge of the conditions, the benefits and limitations of ERT, and its effective management are becoming more important for all nurses. This article will describe several LSDs, namely Gaucher disease, Fabry disease, Pompe disease, and the mucopolysaccharidoses. Each disease pathology, signs and symptoms, and effectiveness of ERT treatment will be discussed, as well as the administration of ERT, common side effects, management of the side effects, and nursing implications. Additionally drug costs and insurance concerns will be highlighted.