Living with Congenital autosomal recessive small-platelet thrombocytopenia
A rare inherited condition with low, small platelets from birth, leading to bleeding such as skin spots and heavy periods.
Understanding Congenital autosomal recessive small-platelet thrombocytopenia
People bleed more easily than expected. Bleeding signs include a rash of tiny red spots (petechiae), bleeding from mucous membranes and heavy menstrual bleeding. Growth and development are normal, and there is no increased risk of infections.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. The summary describes:
- Low platelet count with small platelets
- Tiny red spots on the skin (petechiae)
- Bleeding from mucous membranes
- Heavy menstrual bleeding
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 FYB1 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 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
Changes in the FYB1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: carst; carst - congenital autosomal recessive small-platelet thrombocytopenia
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 autosomal recessive small-platelet thrombocytopenia.
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