Living with Bernard Soulier syndrome
A bleeding disorder caused by large, low-number platelets, leading to easy bruising and nosebleeds.
Understanding Bernard Soulier syndrome
This combination is called macrothrombocytopenia. People tend to bruise easily and have nosebleeds. They may bleed heavily or for a long time after minor injury or surgery, or sometimes with no injury. Women often have heavy or long periods. It can show up at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Easy bruising and bleeding
- Frequent nosebleeds
- Heavy or long periods (menorrhagia)
- Tiny red or purple spots on the skin (petechiae)
- Long bleeding after dental work
- Bleeding in the stomach or gut
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 genes cause this condition. It can be inherited in an autosomal dominant or autosomal recessive way.
Also known as: bernard - soulier thrombopathy; bernard-soulier syndrome; bernard-soulier syndrome, type a1 (recessive); bleeding disorder, platelet-type, 1; bss; giant platelet disease
Patient organizations
- National Bleeding Disorders FoundationBernard Soulier syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Bernard Soulier syndrome.
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