GAUCHER DISEASE WITH IMMUNE THROMBOCYTOPENIA (ITP): A CASE REPORT AND TREATMENT WITH ELTROMBOPAG
(Abstract release date: 05/19/16)
EHA Library. Maria Borin L. 06/09/16; 134983; PB2083
Dr. Lorenza Maria Borin
Contributions
Contributions
Abstract
Abstract: PB2083
Type: Publication Only
Background
Gaucher disease (GD) is a rare multi-systemic metabolic disorder due to the accumulation of glucocerebroside in macrophages. The non-neuronopathic type is characterized by enlargment of liver and/or spleen, skeletal abnormalities, pancytopenia. Thrombocytopenia is usually related to hypersplenism and infiltration of bone marrow by lipid-laden macrophages namely Gaucher cells. Enzyme replacement therapy (ERT) restores the hemoglobin and platelet count in GD patients.
Aims
In GD ERT treated patients, immune thrombocytopenia (ITP) should be considered if persistent low platelet counts is found. Traditional treatmant regiments with steroid and splenectomy should be used with caution. Splenectomy may worsen bone lesions and steroids may induce osteopenia and joints avascular necrosis. Thrombopoietin receptor analogues (romiplostim and eltrombopag) are therapeutic option in ITP patients. The use of romiplostim is reported in 2 cases of GD patients. We report the beneficial use of eltrombopag in one patient who suffered from GD.
Methods
18 YO female patient was diagnosed with Gaucher disease at age 14 (N307S/D399U) and she received imiglucerase. At age 21 she developed purpura and ecchymosis. The platelet count was 0/microL. Bone marrow biopsy (BM) showed a normal erytropoiesis and myelopoiesis and a large number of megakaryocytes. Autoantibodies were negative. A concomitant diagnosis of immune thrombocytopenia was achieved. 1 mg/Kg/die Prednisone and immunoglobulin were given without any response on platelet counts. Splenectomy was not considered due to known bone complication risk in splenectomised GD patients. The patient developed also a severe anemia due to metrorrhagia. Rituximab was given without any results on platelet count. Eltrombopag (dose 50 mg) was initiated raising platelet count from 3,000/µL to 25,000/µL. The dose was increased to 75 mg raising patelet count of 60,000/µL after 5 we3eks. Same dose Romiplostim is maintained for the last 6 months with platelet counts between 40,000 and 80,000/µL without any bleeding events. Repeated BMB showed slight increase of fibrosis and marked hyperplasia of atypical megakaryocytes.
Results
Thrombocytopenia is often present in GD and may be severe in approximately 15% of the patients. Persistent cytopenias may be caused by other underlying pathologies such as autoimmune disorders and it's important to recognize other causes. Before ERT era GD patients with hypersplenism and severe cytopenia were splenectomised. Risks of splenectomy include serious bacterial infection and vascular complications limiting its use in chronic refractory ITP. Splenectomy is avoided in Gaucher patients, because of risk of increasing of skeletal complications (bone infarcts, avascular necrosis). Stable bone marrow results regarding fibrosis in our patients are consistent with data from a recent 2-year follow-up of 100 ITP patients receiving Romiplostim treatment with no evidence of BM fibrosis.
Conclusion
For patients with type I Gaucher disease and concomitant ITP, adjunctive treatment with Eltrombopag was successful in maintaining haemostatic platelet counts without adverse effects. Traditional treatment based on corticosteroids and splenectomy should be used with caution or avoided in GD patients due to possible risk of Gaucher skeletal disease, osteopenia and avascular necrosis, usually determining increased morbidity in this cohort of patients. Use of TPO-RA should be considered in GD patients with ITP.
Session topic: E-poster
Keyword(s): Gaucher disease, Platelet
Type: Publication Only
Background
Gaucher disease (GD) is a rare multi-systemic metabolic disorder due to the accumulation of glucocerebroside in macrophages. The non-neuronopathic type is characterized by enlargment of liver and/or spleen, skeletal abnormalities, pancytopenia. Thrombocytopenia is usually related to hypersplenism and infiltration of bone marrow by lipid-laden macrophages namely Gaucher cells. Enzyme replacement therapy (ERT) restores the hemoglobin and platelet count in GD patients.
Aims
In GD ERT treated patients, immune thrombocytopenia (ITP) should be considered if persistent low platelet counts is found. Traditional treatmant regiments with steroid and splenectomy should be used with caution. Splenectomy may worsen bone lesions and steroids may induce osteopenia and joints avascular necrosis. Thrombopoietin receptor analogues (romiplostim and eltrombopag) are therapeutic option in ITP patients. The use of romiplostim is reported in 2 cases of GD patients. We report the beneficial use of eltrombopag in one patient who suffered from GD.
Methods
18 YO female patient was diagnosed with Gaucher disease at age 14 (N307S/D399U) and she received imiglucerase. At age 21 she developed purpura and ecchymosis. The platelet count was 0/microL. Bone marrow biopsy (BM) showed a normal erytropoiesis and myelopoiesis and a large number of megakaryocytes. Autoantibodies were negative. A concomitant diagnosis of immune thrombocytopenia was achieved. 1 mg/Kg/die Prednisone and immunoglobulin were given without any response on platelet counts. Splenectomy was not considered due to known bone complication risk in splenectomised GD patients. The patient developed also a severe anemia due to metrorrhagia. Rituximab was given without any results on platelet count. Eltrombopag (dose 50 mg) was initiated raising platelet count from 3,000/µL to 25,000/µL. The dose was increased to 75 mg raising patelet count of 60,000/µL after 5 we3eks. Same dose Romiplostim is maintained for the last 6 months with platelet counts between 40,000 and 80,000/µL without any bleeding events. Repeated BMB showed slight increase of fibrosis and marked hyperplasia of atypical megakaryocytes.
Results
Thrombocytopenia is often present in GD and may be severe in approximately 15% of the patients. Persistent cytopenias may be caused by other underlying pathologies such as autoimmune disorders and it's important to recognize other causes. Before ERT era GD patients with hypersplenism and severe cytopenia were splenectomised. Risks of splenectomy include serious bacterial infection and vascular complications limiting its use in chronic refractory ITP. Splenectomy is avoided in Gaucher patients, because of risk of increasing of skeletal complications (bone infarcts, avascular necrosis). Stable bone marrow results regarding fibrosis in our patients are consistent with data from a recent 2-year follow-up of 100 ITP patients receiving Romiplostim treatment with no evidence of BM fibrosis.
Conclusion
For patients with type I Gaucher disease and concomitant ITP, adjunctive treatment with Eltrombopag was successful in maintaining haemostatic platelet counts without adverse effects. Traditional treatment based on corticosteroids and splenectomy should be used with caution or avoided in GD patients due to possible risk of Gaucher skeletal disease, osteopenia and avascular necrosis, usually determining increased morbidity in this cohort of patients. Use of TPO-RA should be considered in GD patients with ITP.
Session topic: E-poster
Keyword(s): Gaucher disease, Platelet
Abstract: PB2083
Type: Publication Only
Background
Gaucher disease (GD) is a rare multi-systemic metabolic disorder due to the accumulation of glucocerebroside in macrophages. The non-neuronopathic type is characterized by enlargment of liver and/or spleen, skeletal abnormalities, pancytopenia. Thrombocytopenia is usually related to hypersplenism and infiltration of bone marrow by lipid-laden macrophages namely Gaucher cells. Enzyme replacement therapy (ERT) restores the hemoglobin and platelet count in GD patients.
Aims
In GD ERT treated patients, immune thrombocytopenia (ITP) should be considered if persistent low platelet counts is found. Traditional treatmant regiments with steroid and splenectomy should be used with caution. Splenectomy may worsen bone lesions and steroids may induce osteopenia and joints avascular necrosis. Thrombopoietin receptor analogues (romiplostim and eltrombopag) are therapeutic option in ITP patients. The use of romiplostim is reported in 2 cases of GD patients. We report the beneficial use of eltrombopag in one patient who suffered from GD.
Methods
18 YO female patient was diagnosed with Gaucher disease at age 14 (N307S/D399U) and she received imiglucerase. At age 21 she developed purpura and ecchymosis. The platelet count was 0/microL. Bone marrow biopsy (BM) showed a normal erytropoiesis and myelopoiesis and a large number of megakaryocytes. Autoantibodies were negative. A concomitant diagnosis of immune thrombocytopenia was achieved. 1 mg/Kg/die Prednisone and immunoglobulin were given without any response on platelet counts. Splenectomy was not considered due to known bone complication risk in splenectomised GD patients. The patient developed also a severe anemia due to metrorrhagia. Rituximab was given without any results on platelet count. Eltrombopag (dose 50 mg) was initiated raising platelet count from 3,000/µL to 25,000/µL. The dose was increased to 75 mg raising patelet count of 60,000/µL after 5 we3eks. Same dose Romiplostim is maintained for the last 6 months with platelet counts between 40,000 and 80,000/µL without any bleeding events. Repeated BMB showed slight increase of fibrosis and marked hyperplasia of atypical megakaryocytes.
Results
Thrombocytopenia is often present in GD and may be severe in approximately 15% of the patients. Persistent cytopenias may be caused by other underlying pathologies such as autoimmune disorders and it's important to recognize other causes. Before ERT era GD patients with hypersplenism and severe cytopenia were splenectomised. Risks of splenectomy include serious bacterial infection and vascular complications limiting its use in chronic refractory ITP. Splenectomy is avoided in Gaucher patients, because of risk of increasing of skeletal complications (bone infarcts, avascular necrosis). Stable bone marrow results regarding fibrosis in our patients are consistent with data from a recent 2-year follow-up of 100 ITP patients receiving Romiplostim treatment with no evidence of BM fibrosis.
Conclusion
For patients with type I Gaucher disease and concomitant ITP, adjunctive treatment with Eltrombopag was successful in maintaining haemostatic platelet counts without adverse effects. Traditional treatment based on corticosteroids and splenectomy should be used with caution or avoided in GD patients due to possible risk of Gaucher skeletal disease, osteopenia and avascular necrosis, usually determining increased morbidity in this cohort of patients. Use of TPO-RA should be considered in GD patients with ITP.
Session topic: E-poster
Keyword(s): Gaucher disease, Platelet
Type: Publication Only
Background
Gaucher disease (GD) is a rare multi-systemic metabolic disorder due to the accumulation of glucocerebroside in macrophages. The non-neuronopathic type is characterized by enlargment of liver and/or spleen, skeletal abnormalities, pancytopenia. Thrombocytopenia is usually related to hypersplenism and infiltration of bone marrow by lipid-laden macrophages namely Gaucher cells. Enzyme replacement therapy (ERT) restores the hemoglobin and platelet count in GD patients.
Aims
In GD ERT treated patients, immune thrombocytopenia (ITP) should be considered if persistent low platelet counts is found. Traditional treatmant regiments with steroid and splenectomy should be used with caution. Splenectomy may worsen bone lesions and steroids may induce osteopenia and joints avascular necrosis. Thrombopoietin receptor analogues (romiplostim and eltrombopag) are therapeutic option in ITP patients. The use of romiplostim is reported in 2 cases of GD patients. We report the beneficial use of eltrombopag in one patient who suffered from GD.
Methods
18 YO female patient was diagnosed with Gaucher disease at age 14 (N307S/D399U) and she received imiglucerase. At age 21 she developed purpura and ecchymosis. The platelet count was 0/microL. Bone marrow biopsy (BM) showed a normal erytropoiesis and myelopoiesis and a large number of megakaryocytes. Autoantibodies were negative. A concomitant diagnosis of immune thrombocytopenia was achieved. 1 mg/Kg/die Prednisone and immunoglobulin were given without any response on platelet counts. Splenectomy was not considered due to known bone complication risk in splenectomised GD patients. The patient developed also a severe anemia due to metrorrhagia. Rituximab was given without any results on platelet count. Eltrombopag (dose 50 mg) was initiated raising platelet count from 3,000/µL to 25,000/µL. The dose was increased to 75 mg raising patelet count of 60,000/µL after 5 we3eks. Same dose Romiplostim is maintained for the last 6 months with platelet counts between 40,000 and 80,000/µL without any bleeding events. Repeated BMB showed slight increase of fibrosis and marked hyperplasia of atypical megakaryocytes.
Results
Thrombocytopenia is often present in GD and may be severe in approximately 15% of the patients. Persistent cytopenias may be caused by other underlying pathologies such as autoimmune disorders and it's important to recognize other causes. Before ERT era GD patients with hypersplenism and severe cytopenia were splenectomised. Risks of splenectomy include serious bacterial infection and vascular complications limiting its use in chronic refractory ITP. Splenectomy is avoided in Gaucher patients, because of risk of increasing of skeletal complications (bone infarcts, avascular necrosis). Stable bone marrow results regarding fibrosis in our patients are consistent with data from a recent 2-year follow-up of 100 ITP patients receiving Romiplostim treatment with no evidence of BM fibrosis.
Conclusion
For patients with type I Gaucher disease and concomitant ITP, adjunctive treatment with Eltrombopag was successful in maintaining haemostatic platelet counts without adverse effects. Traditional treatment based on corticosteroids and splenectomy should be used with caution or avoided in GD patients due to possible risk of Gaucher skeletal disease, osteopenia and avascular necrosis, usually determining increased morbidity in this cohort of patients. Use of TPO-RA should be considered in GD patients with ITP.
Session topic: E-poster
Keyword(s): Gaucher disease, Platelet
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