D2I2.
genetic

Congenital amegakaryocytic thrombocytopenia

amegakaryocytic thrombocytopenia (CAMT) is a rare bone failure characterized by severe thrombocytopenia, which can progress to aplastic and . CAMT usually manifests as thrombocytopenia in the initial month of life or in the fetal phase. Typically CAMPT presents with petechiae, bleeds, recurrent rectal bleeding, or .

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·Thrombocytopenia, petechiae, purpura, and , or intracranial hemorrhages.

Causes — why it happens

  • · .

How it's found

  • ·Bone and testing.

Treatment

  • ·Platelet transfusions and hematopoietic stem cell .

Complications

  • ·Bone failure, aplastic , and pancytopenia.

Outlook

  • ·30% die from of bleeding and 20% die from complications associated with hematopoietic stem cell .
Plain-language summary adapted from Wikipedia. Not medical advice.