Table III.
Recommendations for the management of the haematological aspects of Gaucher disease.
| Grade* | |
|---|---|
| General haematology | |
| Gaucher disease does not exclude other conditions. Physicians should be vigilant to co-existent conditions that may require specifictreatments | B and C |
| The increased lower limits of haemoglobin defining anaemia [Beutler & Waalen, 2006] should be employed in Gaucher diseaseassessment and treatment monitoring | B and C |
| Awareness of expected patterns of cytopenia in Gaucher disease should be increased to alert physicians of co-morbidities e.g. normalhaemoglobin and low platelets counts are outside the norm for asplenic Gaucher patients. Further investigations are required | C |
| At baseline, thorough red blood cell studies should be performed (haemoglobin, red cell indices, reticulocyte count, blood filmstudies) | C |
| At baseline A complete iron metabolism evaluation should be carried out (serum iron, transferrin saturation, ferritin, and B12status) | C |
| Appropriate existing guidelines should be followed for co-existent co-morbidities (e.g. asplenic state, coagulapathy, iron or vitaminB12 deficiency) | C |
| If ferritin and transferrin saturation are increased, look for possible concurrent genetic haemachromatosis using MRI and HFE testing even if Gaucher disease is frankly suspected/established | C |
| Normal transferrin saturation, normal serum iron, and high levels of ferritin are expected in Gaucher disease. Do not phlebotomize | C |
| Be suspicious of ferritin that is normal or just above normal – especially in patients with bone disease or taking non-steroidal anti-inflammatory drugs | C |
| Some Gaucher patients (especially women and children) could be iron deficiency anaemic. If serum iron and transferrin saturationare low with normal or slightly elevated ferritin, the patient may need treatment for iron deficiency anaemia | B |
| Surgeons should be made aware of the possible risks of bleeding complications involved in surgery in Gaucher patients even withplatelet counts >50–100 × 109/l | C |
| Bleeding risk assessment: aPPT, PT, platelet counts, and PFA-100® test should all be carried out. Bleeding time may be unreliable | B and C |
| Prevention of bleeding: DDAVP, coagulation factor, plasma or platelet transfusions may be necessary in cases scheduled for majorsurgery where platelets counts are <100 × 109/l with abnormal APTT, PT or PFA 100, or in cases with platelets <50 × 109/l | B and C |
| Haematological malignancy | |
| Haematologists should recognize the higher incidence of multiple myeloma in Gaucher disease and, possibly, othermyeloproliferative/lymphoproliferative malignancies | B |
| Assessment of abnormal mass detected on imaging: a core biopsy and histological assessment should be carried out with the possibleexception of masses in the spleen, which can be hazardous to biopsy in Gaucher patients | C |
| Cytokine levels are not considered predictive of any increased risk of malignancy and should only be carried out in a research settingand not for clinical monitoring | B and C |
| Adults and paediatric patients should have an immunoglobulin profile (plus clonality) determined at diagnosis with monitoringevery 2 years for patients <50 years and once a year for those 50+ years | C |
| If MGUS is found, a bone marrow biopsy and aspirate should be carried out with full cytogenetic profile | B |
| For patients with MGUS, general MGUS guidelines should be followed including the (potential) use of light chain assays | C |
| The coincidence of Gaucher disease and multiple myeloma, by itself, does not exclude the patient from receiving imiglucerase | C |
| Future studies | |
| Future studies should focus on the utility of early treatment to prevent immunoglobulin abnormalities and multiple myeloma | |
| Reports of all cases of haematological cancer in Gaucher disease should be pooled so that the outcomes of chemotherapy and othertreatments can be assessed to determine best practice in treating patients with malignancies | |
| On-going studies into the pathophysiology of Gaucher disease are essential in identifying the mechanisms involved in cancer andother co-morbidities | |
*
Smith et al, 2006: Grade B (Evidence level IIa, IIb and III) Recommendation based on well-conducted studies but no randomized controlled trials on the topic of recommendation; Grade C (Evidence level IV) Evidence from expert committee reports and/or clinical experiences of respected authorities.