Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, inherited disorder characterized by a severely low number of megakaryocytes, a type of bone marrow cell that makes platelets that are important for clotting and preventing bleeding. Initially, the bone marrow no longer makes platelets; over time, the bone marrow may stop making red and white blood cells, as well.
CAMT is usually diagnosed anywhere from birth to nine months but often in a child’s first month of life. There are two forms of the disease:
Children with CAMT are treated at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center through our Bone Marrow Failure Program. Continue reading to learn more about congenital amegakaryocytic thrombocytopenia or visit the Bone Marrow Failure and Myelodysplastic Syndrome Program page to learn about our expertise and treatment options.
The most common
symptoms of CAMT are:
Children with CAMT can also have central nervous system abnormalities, retardation of psychomotor development, cardiac defects, and other rare malformations.
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:
After all tests are
completed, doctors will be able to outline the best treatment options.
Treatments for congenital amegakaryocytic thrombocytopenia (CAMT) include: