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|Classification and external resources|
Bernard–Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy, is a rare autosomal recessive coagulopathy (bleeding disorder) that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor, an important glycoprotein involved in hemostasis.
The incidence of BSS is estimated to be less than 1 case per million persons, based on cases reported from Europe, North America, and Japan.
BSS is a giant platelet disorder, meaning that it is characterized by abnormally large platelets.
Signs and symptoms
- Perioperative and postoperative bleeding
- Bleeding gums
- Easy bruising
- Heavy menstrual periods
- Epistaxis (nosebleeds)
- Abnormally prolonged bleeding from small injuries
Characterized by prolonged bleeding time, thrombocytopenia (likely due to decreased platelet survival), increased megakaryocytes (bone marrow platelet progenitors), and enlarged platelets, 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. The large platelets and low platelet count in BSS are seemingly due to the absence of GPIbα and the filamin A binding site that links the GPIb-IX-V complex to the platelet membrane skeleton, as the enlarged platelet abnormality and low platelet count have been reversed in BSS mice by expression of an α-subunit of GPIb in which most of the extracytoplasmic sequence has been replaced by an isolated domain of the α-subunit of the human IL-4 receptor but in which the cytoplasmic sequence is normal.
BSS platelets do not aggregate 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.
BSS presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury.
|Condition||Prothrombin time||Partial thromboplastin time||Bleeding time||Platelet count|
|Vitamin K deficiency or warfarin||Prolonged||Normal or mildly prolonged||Unaffected||Unaffected|
|Disseminated intravascular coagulation||Prolonged||Prolonged||Prolonged||Decreased|
|Von Willebrand disease||Unaffected||Prolonged or unaffected||Prolonged||Unaffected|
|Liver failure, early||Prolonged||Unaffected||Unaffected||Unaffected|
|Liver failure, end-stage||Prolonged||Prolonged||Prolonged||Decreased|
|Factor V deficiency||Prolonged||Prolonged||Unaffected||Unaffected|
|Factor X deficiency as seen in amyloid purpura||Prolonged||Prolonged||Unaffected||Unaffected|
|Bernard-Soulier syndrome||Unaffected||Unaffected||Prolonged||Decreased or unaffected|
|Factor XII deficiency||Unaffected||Prolonged||Unaffected||Unaffected|
There are three forms:
- 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
- Dugdale, David. "Congenital platelet function defects". NIH. Retrieved 13 October 2012.
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- Pham A, Wang J (2007). "Bernard-Soulier syndrome: an inherited platelet disorder". Arch. Pathol. Lab. Med. 131 (12): 1834–6. doi:10.1043/1543-2165(2007)131[1834:BSAIPD]2.0.CO;2. PMID 18081445. (subscription required (. ))
- 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]". Semaine des Hôpitaux de Paris (in French) 24 (Spec. No.): 3217–23. PMID 18116504.
- 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