Living with Platelet-type bleeding disorder 18
A rare inherited bleeding disorder that starts in infancy, with nosebleeds, large bruises and bleeding after dental work.
Understanding Platelet-type bleeding disorder 18
Bleeding from the skin and mucous membranes starts in infancy, around 18 months of age. It can include long, severe nosebleeds, large bruises (hematomas) and bleeding after tooth removal. Very heavy periods and long-term low red blood cells (anemia) have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nosebleeds
- Easy bruising
- Long bleeding after dental extraction
- Heavy menstrual periods
- Longer bleeding time
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 RASGRP2 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 National Bleeding Disorders Foundation
- 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 RASGRP2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: bdplt18; bleeding disorder due to calcium- and dag-regulated guanine exchange factor-1 deficiency; bleeding disorder due to caldag-gefi deficiency; inherited bleeding disorder, platelet-type caused by mutation in rasgrp2; rasgrp2 inherited bleeding disorder, platelet-type
Patient organizations
- National Bleeding Disorders FoundationPlatelet-type bleeding disorder 18 · United States
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