Ongoing monitoring is an essential part of Gaucher disease management because of the progressive nature of the disease.
Ongoing monitoring can detect signs of disease progression and is also required to monitor response to treatment. Even patients with mild disease manifestations who are not receiving specific treatment require regular monitoring, as disease progression is unpredictable and some manifestations may be asymptomatic.1
Regular review (every 6-12 months) of a patient with Gaucher disease should include a physical examination, review of the medical history and evaluation of neurological, visceral, haematological and skeletal manifestations.2-4
Neurological evaluation is especially important in individuals with neuronopathic Gaucher disease but is also necessary in patients with non-neuronopathic Gaucher disease, particularly those diagnosed in childhood.2,5 This is because neurological manifestations of primary CNS involvement may develop later than skeletal or visceral manifestations, leading to a diagnosis of type 1 instead of type 3 (see more in Clinical presentation). The neurological evaluation should include eye movement examination, additional neuro-ophthalmological investigations, testing of peripheral hearing, brain imaging, EEG, and neuro-psychometry.3 In adult patients with Gaucher disease type 1, the neurological evaluation should be focused on searching for signs and symptoms of Parkinson’s disease and peripheral neuropathy.1
Visceral and skeletal assessments
Assessment of skeletal manifestations should include regular inquiry about bone crises and bone pain, and physical examination to assess height, range of motion of joints, scoliosis, and deformities. Other important assessments include measurement of bone mineral density with dual-energy X-ray absorption (DXA) and MRI to evaluate abnormal remodelling, marrow infiltration, osteonecrosis, and osteosclerosis.3
Visceral assessment includes regular volumetric MRI to measure spleen and liver enlargement.3
Other assessments that should be performed regularly include complete blood count.2,4 In addition, evaluation of biomarkers, such serum concentrations of ferritin, tartrate-resistant acid phosphatase and chitotriosidase, can aid in the assessment disease progression and response to treatment.2,4