Table 3.

Diagnosis, Work Up and Therapeutic Monitoring in Gaucher Disease (Modified from Niederau, et al⁵⁵).

Type 1—non-neuronopathic form
Diagnosis and work-up	•Clinical examination (height, weight, liver, spleen size, growth) •Glucocerebrosidase activity in leukocytes (or fibroblasts)—gold standard for diagnosis •Gene mutations (for confirmation, prognosis) •Supportive—laboratory tests: Blood counts, liver function tests, biomarkers—chitotriosidase. If chitotriosidase not available—CCl8, ferritin, TRAP, or ACE •USG/MRI abdomen: liver and spleen size, spleen infarcts, lymph nodes, portal hypertension •MRI of the lower limbs or lumbar spine/other bones if needed •If suspected: X-ray chest, echocardiography for pulmonary hypertension
Initial monitoring	•Every 3 months: clinical examination, growth measurement in children, blood counts •Every 6 months: SF-36 for quality of life, Biomarkers, ultrasound abdomen, and skeletal X-rays, LFT, PT, PTT if needed, DEXA scan •Every 12–18 months: if bone involved—MRI bones
Long-term treatment	•Every 6 months: clinical examination, blood counts, ultrasound abdomen, skeletal X-rays, SF-36 for quality of life, LFT if needed •Every 12 months or in case of problems: biomarkers, DEXA scan •Every 3–4 years: MRI in the presence of bone changes
Neuronopathic forms (type 2 and 3): Initial and follow up tests as appropriate for clinical status
•Clinical neurological examination •Examination of eye movement (gaze apraxia) •Neuro-ophthalmological investigation, including direct ophthalmoscopy •Measurement of peripheral hearing (electro-acoustical emission in small children, pure tone audiometry in older patients) •Psychological examination which is age appropriate in older children •MRI brain, EEG, brain stem evoked responses •IQ testing

TRAP: Tartarate resistant acid phosphatase, ACE: Angiotensin converting enzyme, USG: Ultrasonography, MRI: Magnetic resonance imaging, SF-36: Short form 36 (limited value in children), LFT: liver function test PT: prothrombin time, PTT: Partial thromboplastin time, DEXA: Dual energy X-ray absorptiometry, EEG: Electroencephalography, IQ: Intelligence quotient.