ABSTRACT
Alpha-storage pool deficiency of platelet is a very rare disorder associated with a variety of conditions, including autoimmune disease, disseminated intravascular coagulation, myeloproliferative disorders, and cardiopulmonary bypass. This bleeding disorder is characterized by a moderate thrombocytopenia and a selective abnormality in platelet alpha-granules. We experienced the first case of alpha-storage pool deficiency of platelet in a 28-year-old male with severe valvular heart disease in Republic of Korea. Two years ago, mitral valve replacement was performed in other university hospital. Since a few months ago, dyspnea was developed and progressively exacerbated. Transesophageal echocardiogram showed severe mitral valve regurgitation and aortic valve regurgitation. He had moderate thrombocytopenia. Bleeding time was prolonged. Peripheral blood smear showed hypogranular platelets with indistinct cell membrane. In bone marrow biopsy, there showed evidence of mild hyperplasia of megakaryocytes. Platelet aggregation test revealed abnormal response to collagen and epinephrine. Electron microscopy of periphral blood showed the vacuolization of alpha- granules of platelets. Following platelet transfusion, double valve replacement could be performed successfully. Six months later, platelet morphology was moderately normalized. But bleeding time and platelet aggregation test were still abnormal.
Subject(s)
Adult , Humans , Male , Aortic Valve , Autoimmune Diseases , Biopsy , Bleeding Time , Blood Platelets , Bone Marrow , Cardiopulmonary Bypass , Cell Membrane , Collagen , Disseminated Intravascular Coagulation , Dyspnea , Epinephrine , Heart Valve Diseases , Hemorrhage , Hyperplasia , Megakaryocytes , Microscopy, Electron , Mitral Valve , Mitral Valve Insufficiency , Myeloproliferative Disorders , Platelet Aggregation , Platelet Storage Pool Deficiency , Platelet Transfusion , Republic of Korea , ThrombocytopeniaABSTRACT
OBJECTIVES: Recently high dose chemotherapy with autologous peripheral blood stem cell transplantation (APBSCT) has been investigated with the hope of maximizing tumor response and increasing survival. The purpose of this study is to evaluate the effect, feasibility, and toxicity of high-dose cyclophosphamide, thiotepa, and carboplatin (CTCb) with APBSCT in patients with metastatic or high risk primary breast cancer. METHODS: Four cases of high-risk primary breast cancer (with more than 10 involved axillary nodes) and three cases of metastatic disease in complete or partial response were enrolled. Peripheral blood stem cells were mobilized by G-CSF plus chemotherapy, and median number of collected mononuclear cells was 5.44 X 108/kg(range, 1.95-7.08 X 108/kg). High-dose chemotherapy of cyclophosphamide (1,500mg/m2/day), thiotepa (125mg/m2/day) and carboplatin (200mg/m2/day) was administered for 4 days and peripheral blood stem cells were reinfused to the patients 72 hours after the completion of chemotherapy. RESULTS: The median days of recovery for neutrophil (over 500/mm3) and for platelet (over 50,000/mm3) were 10 (range, 8 to 33) and 30 (range, 10 to 40). One patient suffered from seizure attack and grade 3 hepatotoxicity during high dose chemotherapy, There were no treatment-related death. Four patients with high-risk primary breast cancer remained disease-free at 2, 8, 12 and 19 months post-transplant. In one patient with bone metastasis, complete response was induced following APBSCT. All three patients with metastatic disease remained progression-free at 8, 18 and 19 months post-transplant. CONCLUSION: High-dose chemotherapy and autologous peripheral blood stem cell transplantation was feasible and would be a potentially effective treatment modality in high risk and metastatic breast cancer.