Rare and severe congenital disorder of the bone marrow characterized by thrombocytopenia due to absence or deficient levels of megakaryocytes with no associated birth defects or other blood abnormalities. Caused by mutations in the MPL gene. Typically presents at birth, but may present in the first few weeks of life. Common findings include petechiae, ecchymosis, purpura, and internal bleeding. Prognosis is poor, with 20%-30% of affected patients dying due to hemorrhagic complications.
Treatment includes platelet transfusions. Hematopoietic stem cell transplantation is a curative therapy.
Emergency: requires immediate attention
Amegakaryocytic thrombocytopenia
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Codes
ICD10CM:
D69.42 – Congenital and hereditary thrombocytopenia purpura
SNOMEDCT:
234482009 – Amegakaryocytic thrombocytopenia
D69.42 – Congenital and hereditary thrombocytopenia purpura
SNOMEDCT:
234482009 – Amegakaryocytic thrombocytopenia
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Last Updated:01/11/2022