Gaucher disease, the autosomal recessive deficiency of the lysosomal enzyme glucocerebrosidase, is associated with wide phenotypic diversity including non-neuronopathic, acute neuronopathic, and chronic neuronopathic forms. Overlap between types can render definitive diagnoses difficult. However, differentiating between the different phenotypes is essential due to the vast differences in clinical outcomes and response to therapy. Genotypic information is helpful, but cannot always be used to make clinical predictions. Current treatments for Gaucher disease, including enzyme replacement therapy and substrate reduction therapy, can reverse many of the non-neurological manifestations, but these therapies must be administered continually and are extremely costly. Areas covered: We reviewed the literature concerning the varied clinical presentations of Gaucher disease throughout the lifetime, along with treatment options, management goals, and current and future research challenges. A PubMed literature search was performed for relevant publications between 1991 to January 2018. Expert commentary: Interest and research in the field of Gaucher disease is rapidly expanding. However, significant barriers remain in our ability to predict phenotype, assess disease progression using objective biomarkers, and determine optimal treatment strategy on an individual basis. As the field grows, we anticipate identification of genetic modifiers, new biomarkers, and small-molecule chaperone therapies, which may improve patient quality of life.
Objective:The purpose of the study is to gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols.Methods:A structured interview was conducted with parents of living or deceased patients with GD2. Retrospective information obtained included disease presentation, progression, medical and surgical history, medications, family history, management, complications, and cause of death, as well as the impact of disease on families.Results:Data from 23 patients were analyzed (20 deceased and 3 living), showing a mean age at death of 19.2 months, ranging from 3 - 55 months. Fourteen patients were treated with enzyme replacement therapy (ERT), 2 were treated with substrate reduction therapy (SRT) and 3 underwent bone marrow transplantation. Five patients received Ambroxol and one was on N-acetylcysteine, both considered experimental treatments. Fifteen patients had gastrostomy tubes (G-Tube) placed, while 10 underwent tracheostomies. Neurological disease manifestations included choking episodes, myoclonic jerks, autonomic dysfunction, apnea, seizures and diminished blinking, all of which worsened as disease progressed.Conclusions:Current available therapies appear to prolong life but do not alter neurological manifestations. Despite aggressive therapeutic interventions, GD2 still remains a progressive disorder with a devastating prognosis, that may benefit from new treatment approaches.
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