Version May 2024
| Initial assessment and ongoing monitoring | Frequency* | |
| Not receiving ERT | Receiving ERT, has not achieved goals | |
| Physical examination | ||
| Every 6 months | Every 6 to 12 months | |
| Blood tests | ||
| Hemoglobin | Every 12 months | Every 3 months |
| Platelets | Every 12 months | Every 3 months |
| Chitotriosidase, PARC/CCL18, HDL | Every 12 months | Every 3 months |
| Beta-glucosidase and mutation analysis | ||
| Antibody sample¶ | Not necessary | Optional sample after 6 months of therapy |
| Serum immunoelectrophoresisΔ | Every 12 to 24 months in patients >50 years | Every 12 to 24 months in patients >50 years |
| Radiographs | ||
| Visceral | ||
| Spleen volume (MRI or US) | Every 12 to 24 months | Every 12 months |
| Liver volume (MRI or US) | Every 12 to 24 months | Every 12 months |
| Skeletal | ||
| MRI | ||
| Spine (sagittal T1-weighted)Δ | Every 24 months, or less frequently if consistently normal | Every 12 months |
| Femora (coronal T1- and T2-weighted) | Every 24 months, or less frequently if consistently normal (T1- and T2-weighted) | Every 12 month (T1- and T2-weighted) |
| Plain radiographs◊ | ||
| Children: Pelvis, long bones, spine§ | Every 12 to 24 months | Every 12 months |
| Adult: Lateral spine; AP of entire femora¥ | Every 12 to 24 months | Every 12 months |
| DXA spine and hips | Every 12 to 24 months in adults | Every 12 months |
| Cardiopulmonary | ||
| Children: | ||
| Forced vital capacity | Repeat if abnormal at baseline or if symptoms develop | Repeat if abnormal at baseline or if symptoms develop |
| Peak expiratory flow rate | ||
| High-resolution chest computed tomography | ||
| Echocardiography | ||
| Electrocardiogram | ||
| Adults (>18 years): | ||
| Electrocardiogram | Every 12 to 24 months for those with borderline or above normal pulmonary pressures at baseline Consider repeating every 2 to 3 years if baseline is normal | Annual evaluation if signs/symptoms of cardiopulmonary disease are present |
| Chest radiograph | ||
| Doppler echocardiogram (right ventricular systolic pressure) | ||
| Other | ||
| Pain | Every 12 months | Every 6 to 12 months |
| Quality of life | Every 12 months | Every 12 months |
| Validated disease severity score | Every 12 months | Every 12 months |
| Additional tests‡ | ||
| White blood count, prothrombin time, activated partial thromboplastin time, iron, iron-binding capacity, ferritin, vitamin B12, aspartate aminotransferase, and/or alanine aminotransferase; alkaline phosphatase; calcium, phosphorous, albumin, total protein, total and direct bilirubin; hepatitis profile, serum immunoelectrophoresis | ||
ERT: enzyme replacement therapy; PARC/CCL18: pulmonary and activation-regulated chemokine/chemokine (C-C motif) ligand 18; HDL: high-density lipoprotein; MRI: magnetic resonance imaging; US: ultrasonography; DXA: dual-energy x-ray absorptiometry.
* The entire assessment should be performed at baseline and every 12 to 24 months in patients who are receiving ERT and have achieved therapeutic goals. DXA should be performed every 24 months in these patients. The entire assessment also should be performed at the time of dose change or the development of a significant complication.
¶ To be stored and tested only if clinically indicated.
Δ Only in children.
◊ Sites not included here should be evaluated if symptoms develop.
§ Plain radiographs of the spine only when patient is symptomatic (eg, back pain), disease is severe, there is poor growth, or kyphosis.
¥ Optional in absence of new symptoms or evidence of disease progression.
‡ Additional tests to be considered and followed appropriately depending upon patient's age and clinical status.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
