Congenital Amegakaryocytic Thrombocytopenia | Diagnosis & Treatments
How is congenital amegakaryocytic thrombocytopenia diagnosed?
Initially, CAMT can be misdiagnosed as immune thrombocytopenia (ITP), an autoimmune disorder that occurs when the body destroys platelets too quickly. CAMT is diagnosed with:
- Blood tests to determine low platelet count
- Bone marrow evaluation to examine megakaryocytes and other blood-forming cells
- Genetic testing to confirm the diagnosis
After all tests are completed, doctors will be able to outline the best treatment options.
What are the treatment options for CAMT?
Treatments for congenital amegakaryocytic thrombocytopenia (CAMT) include:
- blood transfusion
- stem cell transplant — the only curative treatment for CAMT
What is the long term outlook for children with CAMT?
With supportive therapy alone, the progression to bone marrow failure usually occurs in a child’s first decade of life. A stem cell transplant is the only curative therapy and is successful for over 50 percent of patients. Patients with CAMT may be at increased risk of developing acute myelogenous leukemia or myelodysplastic syndrome.
