Bernard–soulier Syndrome Information
Bernard–Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy,[1] is a rare autosomal recessive coagulopathy (bleeding disorder) that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor, which is important in clot formation.
The incidence is estimated to be less than 1 in 1 million persons, based on cases reported from Europe, North America, and Japan.[2]
It is a Giant Platelet Syndrome that is characterized by abnormally large platelets.
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Characteristics
Characterized by prolonged bleeding time, thrombocytopenia, increased megakaryocytes (giant platelets), and decreased platelet survival, Bernard–Soulier syndrome is associated with quantitative or qualitative defects of the platelet glycopotein complex GPIb/V/IX. The degree of thrombocytopenia may be estimated incorrectly, due to the possibility that when the platelet count is performed with automatic counters, giant platelets, which may be as frequent as 70–80% in occasional patients, may reach the size of red blood cells and, as a consequence, are not recognized as platelets by the counters. Typically, BSS platelets do not agglutinate to ristocetin, and this defect is not corrected by the addition of normal plasma, distinguishing it from Von Willebrand disease. The platelet responses to physiologic agonists is normal, with the exception of low concentrations of thrombin. Bleeding events, which may be very severe, can be controlled by platelet transfusion. Most heterozygotes, with few exceptions, do not have a bleeding diathesis.
It presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury.[3]
| Condition | Prothrombin time | Partial thromboplastin time | Bleeding time | Platelet count |
|---|---|---|---|---|
| Vitamin K deficiency or warfarin | prolonged | prolonged | unaffected | unaffected |
| Disseminated intravascular coagulation | prolonged | prolonged | prolonged | decreased |
| Von Willebrand disease | unaffected | prolonged | prolonged | unaffected |
| Haemophilia | unaffected | prolonged | unaffected | unaffected |
| Aspirin | unaffected | unaffected | prolonged | unaffected |
| Thrombocytopenia | unaffected | unaffected | prolonged | decreased |
| Early Liver failure | prolonged | unaffected | unaffected | unaffected |
| End-stage Liver failure | prolonged | prolonged | prolonged | decreased |
| Uremia | unaffected | unaffected | prolonged | unaffected |
| Congenital afibrinogenemia | prolonged | prolonged | prolonged | unaffected |
| Factor V deficiency | prolonged | prolonged | unaffected | unaffected |
| Factor X deficiency as seen in amyloid purpura | prolonged | prolonged | unaffected | unaffected |
| Glanzmann's thrombasthenia | unaffected | unaffected | prolonged | unaffected |
| Bernard-Soulier syndrome | unaffected | unaffected | prolonged | decreased |
Genetics
Bernard-Soulier syndrome has an autosomal recessive pattern of inheritance.There are three forms:[4]
Eponym
The syndrome is named after Dr. Jean Bernard and Jean Pierre Soulier.[5][6]
References
- ^ Lanza F (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis. 16 (1): 46. doi:10.1186/1750-1172-1-46. PMC 1660532. PMID 17109744.
- ^ Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome Georgia Kostopanagiotou MD, Ioanna Siafaka MDa, Constantinos Sikiotis MDa, and Vassilios Smyrniotis MDa. Received 23 July 2003; Revised 21 October 2003
- ^ Pham A, Wang J (2007). "Bernard-Soulier syndrome: an inherited platelet disorder" (subscription required). Arch. Pathol. Lab. Med. 131 (12): 1834–6. PMID 18081445. http://journals.allenpress.com/jrnlserv/?request=get-abstract&issn=0003-9985&volume=131&page=1834.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) GIANT PLATELET SYNDROME -231200
- ^ synd/2075 at Who Named It?
- ^ Bernard J, Soulier JP (December 1948). "[Sur une nouvelle variété de dystrophie thrombocytaire hémorragipare congénitale]" (in French). Semaine des hôpitaux de Paris 24 (Spec. No.): 3217–23. PMID 18116504.
External links
- http://www.bernardsoulier.org/
- http://www.B-SS.org
- De Marco L, Mazzucato M, Fabris F, et al. (July 1990). "Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex". J. Clin. Invest. 86 (1): 25–31. doi:10.1172/JCI114692. PMC 296685. PMID 1694864.
- Giant platelet syndrome; Bernard-Soulier syndrome; Deficiency of Platelet glycoprotein 1b at NIH's Office of Rare Diseases
See also
Categories: Hematology | Blood disorders | Autosomal recessive disorders
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