Ongoing monitoring

Patients identified with symptomatic Gaucher disease require regular monitoring due to the uncertain course of the disease in different individuals.

Weinreb’s evaluation and monitoring guidelines recommend follow-up every 3 months until stable and then 12 to 24-monthly assessments to include clinical evaluation of hematological, visceral, skeletal and neurological disease where appropriate. Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher Disease Type 1: Revised Recommendations on Evaluations and Monitoring for Adult Patiets. Seminars in Hematology. 2004; 41 (4); 15-22. Blood tests should include a full blood platelet count. Examples of additional assessments include chitotriosidase activity, vitamin B12, hemoglobin, ACE, TRAP and ferritin. Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher Disease Type 1: Revised Recommendations on Evaluations and Monitoring for Adult Patiets. Seminars in Hematology. 2004; 41 (4); 15-22.

Skeletal evaluations

Ongoing diagnostic imaging should include MRI  and Dual energy X-ray absorptiometry every 12-24 months. Ultrasound and echocardiography may be appropriate in some patients. Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher Disease Type 1: Revised Recommendations on Evaluations and Monitoring for Adult Patiets. Seminars in Hematology. 2004; 41 (4); 15-22.

Neurological evaluations

Subsequent neurological monitoring should be carried out regularly, whether or not neurological involvement is detected initially. A European guideline recommends the following follow-up of neurological symptoms in neuronopathic Gaucher disease: Vellodi A1, Tylki-Szymanska A, Davies EH, et al. Management of neuronopathic Gaucher disease: Revised recommendations. J Inherit Metab Dis. 2009 Oct;32(5):660-4.

  • neurological examination (in the first year, every 6 months following or 1 year for stable adults and adolescents)
  • eye movements examination
  • additional neuro-ophthalmological examination
    (only if clinically indicated, e.g. development of sixth-nerve palsy)
  • peripheral hearing
    (every 2-3 years)
  • brain imaging, preferably by magnetic resonance imaging (MRI)
    (only if clinically indicated, patients with a D409H allele may need scans on a more regular basis due to the risk of hydrocephalus)
  • neuropsychometry.
    (once every few years)

 

Patients identified with a Gaucher disease mutation, who may be asymptomatic, will not require treatment but should be managed for any disease progression and treatment applied as appropriate.