National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Giant platelet syndrome


Other Names:
Bernard-Soulier syndrome; BSS; Platelet glycoprotein 1b, deficiency of; Bernard-Soulier syndrome; BSS; Platelet glycoprotein 1b, deficiency of; Deficiency of platelet glycoprotein 1b; Von Willebrand factor receptor deficiency; Macrothrombocytopenia, familial Bernard-Soulier type; Hemorrhagiparous thrombocytic dystrophy; Giant platelet disease See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 274

Definition
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Impaired ristocetin-induced platelet aggregation 0011871
80%-99% of people have these symptoms
Decreased platelet glycoprotein Ib-IX-V 0011879
Giant platelets 0001902
Macrothrombocytopenia 0040185
30%-79% of people have these symptoms
Menorrhagia
Abnormally heavy bleeding during menstruation
0000132
Petechiae 0000967
Prolonged bleeding after dental extraction 0006298
Spontaneous hematomas 0007420
Spontaneous, recurrent epistaxis
Recurring nosebleed
Spontaneous, recurrent nosebleed
[ more ] 		0004406
5%-29% of people have these symptoms
Abnormal megakaryocyte morphology 0012143
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Gingival bleeding
Bleeding gums
0000225
Hematemesis
Vomitting blood
0002248
Macroscopic hematuria
Bloody urine
0012587
Prolonged bleeding after surgery
Excessive bleeding during surgery
Protracted bleeding after surgery
[ more ] 		0004846
1%-4% of people have these symptoms
Asthma 0002099
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] 		0002076
Partially duplicated kidney 0008738
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Prolonged bleeding time 0003010
Purpura
Red or purple spots on the skin
0000979
Thrombocytopenia
Low platelet count
0001873
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Giant platelet syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Giant platelet syndrome. Click on the link to view a sample search on this topic.

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