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Emergency: requires immediate attention
Amegakaryocytic thrombocytopenia
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Emergency: requires immediate attention

Amegakaryocytic thrombocytopenia

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Contributors: Carla Casulo MD
Other Resources UpToDate PubMed

Synopsis

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.

For more information, see OMIM.

Codes

ICD10CM:
D69.42 – Congenital and hereditary thrombocytopenia purpura

SNOMEDCT:
234482009 – Amegakaryocytic Thrombocytopenia

Differential Diagnosis & Pitfalls

Best Tests

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Therapy

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References

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Last Updated: 03/29/2017
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Emergency: requires immediate attention
Amegakaryocytic thrombocytopenia
Print 1 Images
Amegakaryocytic thrombocytopenia : Ecchymosis, PLT decreased
Copyright © 2019 VisualDx®. All rights reserved.