Congenital Amegakaryocytic Thrombocytopenia (CAMT)

What is congenital amegakaryocytic thrombocytopenia?

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:

  • Group I CAMT—severe, persistent thrombocytopenia (low platelet count) and early onset of pancytopenia (low red and white blood cell count)
  • Group II CAMT—temporary increase in platelets early in life, with possible later development of pancytopenia

What are the symptoms of CAMT?

The most common symptoms of CAMT are:

  • bruising
  • bleeding, which can be life-threatening
  • petechiae — tiny red dots under the skin that are a result of very small bleeds into the skin

Children with CAMT can also have central nervous system abnormalities, retardation of psychomotor development, cardiac defects, and other rare malformations.

How we care for CAMT 

Children with CAMT receive treatment 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.