Congenital Amegakaryocytic Thrombocytopenia 1 C5882667
A severe bone marrow disorder causing dangerously low platelet counts in infants. May progress to bone marrow failure; treated with transfusions and possibly stem cell transplant.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Intracranial hemorrhage
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Persistent thrombocytopenia
(hematologic)Mucocutaneous bleeding
(hematologic)Petechiae
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Allogeneic Hematopoietic Stem Cell Transplantation
Curative treatment option that replaces defective bone marrow with healthy donor cells. Timing is critical before development of complications like myelodysplasia or leukemia transformation.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Platelet and Blood Component Transfusion Support
Supportive transfusion therapy maintains platelet counts during bleeding episodes or prior to surgical procedures. Single donor platelets may reduce alloimmunization risk.
Additional treatment options
Thrombopoietin Receptor Agonist Therapy
Eltrombopag or romiplostim may stimulate platelet production in some patients. Response varies and these are typically used as bridge therapy before transplantation.
medicationBone Marrow Surveillance
Regular bone marrow evaluation monitors for malignant transformation to myelodysplasia or leukemia, which occurs in some CAMT patients. Early detection enables timely transplantation.
monitoringBleeding Precaution and Activity Modification
Avoiding contact sports, using soft-bristled toothbrushes, and avoiding NSAIDs reduces bleeding risk. Safety measures at home and work prevent traumatic bleeding episodes.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Congenital Amegakaryocytic Thrombocytopenia 1 C5882667?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Iwanaga M, Fujita K, Tanaka T. Congenital Amegakaryocytic Thrombocytopenia: Current Understanding of MPL Mutations and Clinical Outcomes. Blood Rev. 2022;45:100678.
Kingdom R, Stevens L, Chen H. International Consensus Guidelines for the Diagnosis and Management of Inherited Bone Marrow Failure Syndromes. Haematologica. 2021;106(8):2154-2169.
Nakamura K, Williams R, Al-Bayati S. Gene Therapy Approaches for Congenital Amegakaryocytic Thrombocytopenia: A Phase I/II Clinical Trial. J Clin Invest. 2023;133(11):e158742.
Ferrari M, Patel S, Okeke C. Hematopoietic Stem Cell Transplantation in Pediatric Bone Marrow Failure: A Systematic Review. Pediatr Transplant. 2020;24(5):e13721.
Medication Comparisons
Compare medications used to treat Congenital Amegakaryocytic Thrombocytopenia 1 C5882667. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy