Living with Congenital amegakaryocytic thrombocytopenia
A rare inherited bone marrow condition in young children where too few platelets are made, causing bruising and bleeding.
Understanding Congenital amegakaryocytic thrombocytopenia
Without platelets, blood does not clot well. Petechiae (tiny red spots), bruising and bleeding usually begin at birth or in the first year. Over time the marrow may stop making red blood cells and neutrophils too, and about half of children develop aplastic anemia. Diagnosis is usually made by 1 month of age. Some people are at risk of leukemia.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these:
- Tiny red spots on the skin (petechiae)
- Easy bruising
- Bleeding
- Aplastic anemia in nearly half of children
- Brain or heart differences in some
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 rare disease patient organizations for support
- 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
It is caused by changes in the MPL gene.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital amegakaryocytic thrombocytopenia.
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