What is congenital amegakaryocytic thrombocytopenia (CAMT)?
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disease where the blood producing cells located in the bone marrow, do not work as they should (this has been termed ‘bone marrow failure’). In CAMT, initially the bone marrow no longer produces platelets. Platelets are important in blood clotting and preventing bleeding. Platelets are made by a bone marrow cell called a megakaryocyte. In CAMT, there are severely reduced numbers of these cells. Over time, the bone marrow may also stop making other blood cells such as red blood cells and white blood cells.
What are the symptoms of congenital amegakaryocytic thrombocytopenia (CAMT)?
Symptoms for congenital amegakaryocytic thrombocytopenia include bruising and bleeding, which can be life threatening. This disease is usually diagnosed in infants who often have a skin rash called ‘petechiae’ which represent small bleeds under the skin but there may also be other sites of bleeding. This disease can be inherited and be found in other family members.
How is congenital amegakaryocytic thrombocytopenia (CAMT) diagnosed?
A low platelet count (thrombocytopenia) is diagnosed using a simple blood test. A bone marrow evaluation will also be performed to look at the megakaryocytes (or platelet producing cells) as well as to evaluate the other blood forming cells. Genetic tests can confirm this rare condition as research has demonstrated that patients with CAMT have a mutation in a gene called the c-MPL gene.
How is congenital amegakaryocytic thrombocytopenia (CAMT) treated?
Treatment for CAMT involves treating and preventing bleeding with platelet transfusion. In most cases, bone marrow or stem cell transplant is required for cure.
About treatment for congenital amegakaryocytic thrombocytopenia (CAMT) at Children’s
Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. In the program, families coping with bone marrow failure disorders receive care spearheaded and coordinated by a board-certified hematologist/oncologist.
If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children’s – Minneapolis at 612-813-5940.
If you are a health professional looking for consultation or referral information, please call Children’s Physician Access at 1-866-755-2121 (toll-free).