Management of the condition

The management of Gaucher disease involves disease-specific therapies as well as supportive care in the form of symptomatic treatments (learn more in Symptom management), genetic counselling and psychosocial support.

After a diagnosis of Gaucher disease is made, a comprehensive evaluation of all disease domains should be performed. This enables baseline characteristics and eligibility for treatment to be determined, as well as being important for the development of individual therapeutic goals and disease monitoring.1,2 You can learn more about the assessments required for a comprehensive evaluation in Ongoing monitoring

Ideally, the care of patients with Gaucher disease should be overseen by a specialist Gaucher disease centre.3 When this is not possible, for example due to long distances, patients can be monitored by a local physician and have annual consultations with a Gaucher disease expert.3

Information for Haematologists

Information for Haematologists

Learn more about the important role of haematologists in the diagnosis of Gaucher disease.

Ongoing Monitoring

Ongoing Monitoring

Ongoing monitoring is required to detect signs of disease progression and response to treatment.

Disease Registry

Disease Registry

The International Collaborative Gaucher Group (ICGG) Gaucher Registry is the largest ongoing longitudinal international database that tracks demographic and clinical outcome data from patients with Gaucher disease.

References

  1. 1.Mistry PK, Cappellini MD, Lukina E, et al. (2011) A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol 86(1): 110-115.
  2. 2.Kaplan P, Baris H, De Meirleir L, et al. (2013) Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr 172(4): 447-458.
  1. 3.Baris HN, Cohen IJ, Mistry PK. (2014) Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev 12 Suppl 1: 72-81.