Bernard-Soulier syndrome

Common Name(s)

Bernard-Soulier syndrome, Giant Platelet Syndrome

Bernard-Soulier syndrome, also known as hemorrhagiparous thrombocytic dystrophy, is a rare disorder that prevents a person from being able to stop bleeding after an injury or surgery. A portion of our blood is made up of platelets, which are cells that help blood to clot and therefore stops bleeding. While people affected by Benard-Soulier syndrome have large platelets, they do not have enough. This means that something as small as a paper cut will not stop bleeding for hours. Other symptoms of people affected with Bernard-Soulier syndrome are bleeding gums (the area around your teeth), easy bruising, and heavy menstrual periods. Talk with your doctor to find the best treatment if you or a loved one has been diagnosed with Bernard-Soulier syndrome.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bernard-Soulier syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bernard-Soulier syndrome" returned 39 free, full-text research articles on human participants. First 3 results:

Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy.
 

Author(s): Sachiko Kanaji, Erin L Kuether, Scot A Fahs, Jocelyn A Schroeder, Jerry Ware, Robert R Montgomery, Qizhen Shi

Journal: Mol. Ther.. 2012 Mar;20(3):625-32.

 

Bernard-Soulier syndrome (BSS) is an inherited bleeding disorder caused by a defect in the platelet glycoprotein (GP) Ib-IX-V complex. The main treatment for BSS is platelet transfusion but it is often limited to severe bleeding episodes or surgical interventions due to the risk of ...

Last Updated: 1 Mar 2012

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A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis.
 

Author(s): Silvia Vettore, Fabiana Tezza, Alessandro Malara, Fabrizio Vianello, Alessandro Pecci, Raffaella Scandellari, Matteo Floris, Alessandra Balduini, Fabrizio Fabris

Journal: Haematologica. 2011 Dec;96(12):1878-82.

 

Platelet glycoprotein GPIbα mutations are the basic defect behind Bernard-Soulier syndrome, a rare inherited macrothrombocytopenia characterized by anomalies of the GPIbα, GPIbβ and GPIX subunits of von Willebrand factor receptor. A 32-year old man was investigated for suspected ...

Last Updated: 7 Dec 2011

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Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.
 

Author(s): Paul A McEwan, Wenjun Yang, Katherine H Carr, Xi Mo, Xiaofeng Zheng, Renhao Li, Jonas Emsley

Journal: Blood. 2011 Nov;118(19):5292-301.

 

Platelet GPIb-IX receptor complex has 3 subunits GPIbα, GPIbβ, and GPIX, which assemble with a ratio of 1:2:1. Dysfunction in surface expression of the complex leads to Bernard-Soulier syndrome. We have crystallized the GPIbβ ectodomain (GPIbβ(E)) and determined the structure ...

Last Updated: 14 Nov 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bernard-Soulier syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).
 

Author(s): François Lanza

Journal:

 

Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. This syndrome is extremely rare ...

Last Updated: 23 Nov 2006

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Bernard-Soulier syndrome.
 

Author(s): J A López, R K Andrews, V Afshar-Kharghan, M C Berndt

Journal: Blood. 1998 Jun;91(12):4397-418.

 

Last Updated: 30 Jun 1998

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An acquired-pseudo Bernard Soulier syndrome occurring with autoimmune chronic active hepatitis and anti-cardiolipin antibody.
 

Author(s): I L Beales

Journal: Postgrad Med J. 1994 Apr;70(822):305-8.

 

A case of autoimmune chronic active hepatitis with unusual extrahepatic manifestations is described. The patient exhibited marked thrombocytopenia and platelet aggregation dysfunction and morphological changes suggesting an acquired Bernard Soulier-type syndrome. This has not previously ...

Last Updated: 16 Jun 1994

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.