Congenital amegakaryocytic thrombocytopenia

Congenital amegakaryocytic thrombocytopenia, abbreviated CAMT, is a rare autosomal recessive bone marrow failure syndrome marked by severe thrombocytopenia, which can progress to aplastic anemia and leukemia. It usually shows as a low platelet count in the first month of life or before birth, with petechiae, bleeding in the brain, recurrent rectal bleeding or lung hemorrhage. It is believed to be caused by mutations in the MPL gene, which codes for the thrombopoietin receptor. Diagnosis is by bone marrow biopsy, and it is often first suspected to be fetal and neonatal alloimmune thrombocytopenia. Treatment is mostly supportive, with repeated platelet transfusions, and hematopoietic stem cell transplantation is the only known cure. This entry is a reference record and not medical advice.