Living with Platelet-type bleeding disorder 19
A rare inherited platelet disorder with low platelet counts and large platelets, causing nosebleeds, bruises and heavy periods.
Understanding Platelet-type bleeding disorder 19
It starts in infancy. Platelets are not formed or activated properly. This leads to repeated bleeding episodes, including nosebleeds, bruises that form on their own and heavy menstrual periods.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nosebleeds
- Bruises (hematomas) that form on their own
- Heavy menstrual periods
- Low platelet count (thrombocytopenia)
- Large platelets (macrothrombocytopenia)
- Low red blood cells (anemia)
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 PRKACG 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 PRKACG gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: bdplt19; isolated hereditary giant platelet disorder caused by mutation in prkacg; prkacg isolated hereditary giant platelet disorder; severe autosomal recessive macrothrombocytopenia
Patient organizations
- National Bleeding Disorders FoundationPlatelet-type bleeding disorder 19 · United States
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