Living with Isolated delta-storage pool disease
A rare blood condition in which platelets do not work well, causing easy bruising and bleeding.
Understanding Isolated delta-storage pool disease
Platelets are blood cells that help blood clot. In this condition, parts of the platelets called dense granules form poorly or do not work, and so do melanosomes (pigment parts) in skin cells. Signs range from mild bleeding and easy bruising to moderate skin and mucous membrane bleeding. Bleeding can also be a problem after surgery.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Easy bruising
- Mild to moderate bleeding
- Bleeding from the skin and mucous membranes
- Bleeding after surgery
- Low platelet count (thrombocytopenia)
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 FLI1 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 FLI1 gene are listed. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: isolated delta-spd; isolated dense-spd; isolated dense-storage pool disease
Patient organizations
- National Bleeding Disorders FoundationIsolated delta-storage pool disease · United States
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