Congenital amegakaryocytic thrombocytopenia

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare genetic disease characterised by a significantly low amount of megakaryocytes, a kind of bone marrow cell that produces platelets that help with clotting and bleeding prevention. The bone marrow stops producing platelets at first, and it may eventually stop producing 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.

An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

The prevalence of congenital amegakaryocytic thrombocytopenia (CAMT) is unknown, with less than 100 cases recorded in the literature. Furthermore, due to the disease’s complex and variable diagnosis, the incidence may be underestimated.

Bruising and bleeding, which can be life-threatening, are symptoms of congenital amegakaryocytic thrombocytopenia. This condition is typically identified in babies who have a skin rash known as ‘petechiae,’ which represents little bleeds beneath the skin, but there may be additional bleeding sites. This disease can be passed down through the generations and can be found in other family members.

A simple blood test can detect thrombocytopenia (low platelet count). A bone marrow examination will be carried out to examine the megakaryocytes (platelet-producing cells) as well as the other blood-forming cells. Patients with CAMT have a mutation in a gene called the c-MPL gene, according to studies. Genetic tests can confirm this rare disorder.

Platelet transfusion is used to treat and prevent bleeding in CAMT patients. In the vast majority of cases, a bone marrow or stem cell transplant is required to achieve remission.