Gaucher disease type 1 can be effectively managed with treatment, including oral therapies. Therapy has been shown to help reduce and relieve certain signs and symptoms of Gaucher disease type 1. The goal of treatment is to reduce or prevent the buildup of GL-1.1,2,3
Maximizing therapeutic goals
Gaucher disease requires an individualized disease management model that takes into account the progressive nature of disease and the severity of clinical manifestations. Generally, pre-emptive therapy before irreversible complications occur can be more effective than a “watchful waiting” approach.3
SRT reduces glycolipid accumulation by decreasing the synthesis of glucocerebroside, the substrate of the deficient enzyme. The residual enzyme is then able to handle the decreased amount of lipids produced.2,4
By adding more of the enzyme needed to break down GL-1, ERT catalyzes the hydrolysis of glucocerebroside, reducing the build-up of GL-1.2,5 There are several treatments currently available.
Because Gaucher disease type 1 follows a progressive and unpredictable course, regular monitoring is important.6 The following recommendations are for adult Gaucher disease type 1 patients.
Physicians should determine the actual frequency of necessary assessments according to a patient’s individualized therapeutic goals and routine follow-up
Abbreviations: ACE, angiotensin-converting enzyme; ALT, alanine aminotransferase; AP, anteroposterior; AST, aspartate aminotransferase; CT, computed tomography; DEXA, dual-energy X-ray absorptiometry; ECG, electrocardiogram; MRI, magnetic resonance imaging; PT, prothrombin time; PTT, partial thromboplastin time; TRAP, tartrate-resistant acid phosphatase; WBC, white blood cell.
3. One or more of these biochemical markers should be consistently monitored at least every 12 months and in conjunction with other clinical assessments of disease activity and response to treatment. Of the three recommended markers, chitotriosidase, when available as a validated procedure from an experienced laboratory, may be the most sensitive indicator of changing disease activity, and is therefore preferred.
6. Obtain contiguous transaxial 10 mm-thick sections for sum of region of interest
9. Anatomical sites not included here should be evaluated if symptoms develop in such locations.
10. Optional in absence of new symptoms or evidence of disease progression.
Encourage testing of other family members
Test to Know. It’s a Simple Blood TestReferences:
1. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biol Targets Ther. 2010;4:299-313.
2. Pastores GM, Hughes DA. Gaucher disease. GeneReviews®. Seattle WA: NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK1269/?report=printable. Published July 27, 2000. Updated June 21, 2018. Accessed July 2, 2018.
3. Mistry PK, Capellini MD, Lukina E, et al. Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.
4. Shayman JA. Eliglustat tartrate: glucosylceramide synthase inhibitor treatment of type 1 Gaucher disease. Drugs Future. 2010;35(8):613-620.
5. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2).
6. Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol. 2004;41(suppl 5):15-22.
