A Family Guide to Non-Oncologic Blood Disorders
Congenital Amegakaryocytic Thrombocytopenia
What is congenital amegakaryocytic thrombocytopenia?
What tests and procedures will my child need? • Complete blood count; serum thrombopoietin levels • Bone marrow aspirate and biopsy with cytogenetics (the removal of a small amount of liquid and soft tissue from the bone marrow for more extensive analysis) What are the treatment options for CAMT? Currently, treatment for CAMT is limited. Supportive care includes the use of unrelated donor platelet transfusions to ensure that platelet levels do not fall to dangerous levels, and avoidance of medications such as aspirin and nonsteroidal antiinflammatory drugs such as Motrin. The primary treatment for CAMT is bone marrow transplanta- tion, which is the only treatment that can cure the disease. A matched sibling is the best donor, but unrelated donors can be used when a sibling donor is not available. Your medical team will determine the best treatment plan for your child. How successful is the treatment? The majority of patients do well, but bleeding complications present a challenge during transplant. Approximately 80% of patients who undergo hematopoietic stem cell transplant (HSCT) survive.
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure disease that manifests in early infancy, usually at birth or within the first month of life. The bone marrow does not make platelets or megakaryocytes, the cells responsible for the production of platelets, which are necessary for normal blood clotting. The bone marrow also may stop making red blood cells and neutrophils. The following are the most common symptoms of CAMT. However, each child may experience symptoms differently. Symptoms may include: • Petechiae (small, round, flat spot of bleeding in the skin or in the mucous membranes) • Purpura (red or purple discolorations of the skin) • Easy bruising • Life-threatening bleeding involving skin, mucous membranes, gastrointestinal tract, lungs, and within the brain • Reduced blood platelets and megakaryocytic deficiency, which prevents the production of adequate numbers of platelets • Skeletal abnormalities, cardiac defects, and pro- nounced delay of psychomotor development occasion- ally are reported
Stem Cell Transplant Indications HSCT currently is the only cure for this disease.
How is CAMT diagnosed? • Complete blood count
• Evaluation of the blood smear (thin layer of blood is placed on a slide and the various blood cells are exam- ined with a microscope) • Molecular and cytogenetic investigations of blood or bone marrow cells with a microscope to detect any visible changes in chromosomes that contain genetic material • Elevated serum levels of thrombopoietin
Congenital Amegakaryocytic Thrombocytopenia
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