Living with Congenital amegakaryocytic thrombocytopenia 1
A rare inherited bone marrow condition with very low platelets early in life that can progress to low counts of all blood cells.
Understanding Congenital amegakaryocytic thrombocytopenia 1
In the first years of life, platelets and the cells that make them (megakaryocytes) are very low. Later in childhood, this can progress to bone marrow failure with low counts of all blood cells (pancytopenia).
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Very low platelet count early in life
- Low counts of all blood cells later in childhood
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in MPL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Platelet Disorder Support Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MPL gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: amegakaryocytic thrombocytopenia, congenital 1; camt1; congenital amegakaryocytic thrombocytopenic purpura; thrombocytopenia, congenital amegakaryocytic
Patient organizations
- Platelet Disorder Support AssociationCongenital amegakaryocytic thrombocytopenia 1 · United States
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