Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure disease in young children. In this disease, the bone marrow no longer produces platelets or megakaryocytes so the child’s blood will not be able to clot should he/she experience bleeding. Over time, the bone marrow may also stop making red blood cells and neutrophils.
Symptoms for congenital amegakaryocytic thrombocytopenia include bruising and bleeding, which can be life-threatening.
Patients with this disease are usually diagnosed as infants and have petechiae (a small round, flat spot of bleeding in the skin or in a mucous or serous membrane), purpura, or bleeding that involves the skin, mucous membranes, or gastrointestinal tract. Bleeding within the skull has also been reported.
CAMT can come in two forms. The first, group I, is characterized by severe, persistent thrombocyctopenia (low platelet count so blood cannot clot) and early onset of pancytopenia (low counts of red and white blood cells).
CAMT group II have a transient increase in platelets early in life and may develop pancytopenia later, or not at all.
Patients with CAMT may be at higher risk for developing acute myelogenous leukemia or myelodysplastic syndrome.
Molecular testing will help diagnose this rare condition. Mutations in the c-MPL gene are associated with CAMT so complete blood counts and evaluations of the blood smear should be completed. Bone marrow examination withy cytogenetics is used when a patient has symptoms of primary bone marrow dysfunction. Other possible causes of low platelets should be ruled out.
Congenital amegakaryocytic thrombocytopenia is a rare disease. It may be inherited from parent to child. No other genetics are known at this time.