title: How I treat Gaucher disease.
abstract: This review presents a cohesive approach to treating patients with Gaucher disease. The spectrum of the clinical presentation of the disease is broad, yet heretofore there was only one disease-specific treatment. In the past 2 years, a global shortage of this product has resulted in reassessment of the "one enzyme-one disease-one therapy" mantra. It has also showcased the multiple levels that engage the patient, the treating physician, and the third-party insurer in providing adequate treatment to all symptomatic patients. The key points summarizing the way I manage my patients include accurate enzymatic diagnosis with mutation analysis (for some prognostication and better carrier detection in the family), a detailed follow-up every 6-12 months (with an option to see consultants and attention to comorbidities), and initiation of enzyme replacement therapy according to symptoms or deterioration in clinically significant features or both. I do not treat patients with very mild disease, but I consider presymptomatic therapy for patients at risk, including young women with poor obstetric history. I prefer the minimal-effective dose rather than the maximally tolerated dose, and when the difference between high-dose and lower-dose regimens is (merely statistically significant but) clinically meaningless, minimizing the burden on society by advocating less-expensive treatments is ethically justified.
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel. azimran@gmail.com
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
mesh_terms: D004252:DNA Mutational Analysis; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D005817:Genetic Counseling; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics / Q000378:metabolism / Q000627:therapeutic use*; D006801:Humans; D009154:Mutation
chemical_list: D005962:Glucosylceramidase