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Bernard Soulier Syndrome
Synonyms: Giant Platelet Syndrome
Congenital bleeding disorder characterized by thrombocytopenia and large platelets. The molecular defect involves the absence of a platelet membrane glycoprotein (platelet membrane von Willebrand factor) leading to defective platelet adhesion. It is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant platelets, and an increased bleeding tendency.
- Symptoms are of variable abnormal bleeding, including easy bruising, nosebleeds, mucosal bleeding, menorrhagia and occasionally gastrointestinal bleeding.
Pregnancy in patients with Bernard Soulier syndrome is characterized by antenatal haemorrhage, intrapartum haemorrhage and postpartum haemorrhage, which may be delayed and severe.3 - The severity of symptoms is very variable.
- Heterozygotes usually have no bleeding abnormality.1
- May-Hegglin Anomaly - autosomal dominant disorder of variable thrombocytopenia associated with purpura and bleeding, giant platelets and large inclusion bodies in the white cells.
- Thrombocytopenia-absent radius syndrome.
- Von Willebrand Disease.
- Idiopathic thrombocytopenic purpura (ITP).
- Other inherited giant platelet disorders, e.g. grey platelet syndrome.
- Full blood count and film: Platelet count is usually low but may be normal. Giant platelets are seen on the blood film.
- Bleeding time is prolonged and may be longer than 20 minutes.
- Platelet aggregation studies: Platelets do not aggregate in response to ristocetin or von Willebrand factor.
- Flow cytometry can demonstrate abnormalities of platelet membrane glycoprotein.4
- Activity: For patients with moderate-to-severe symptoms, some restriction of activity, e.g. contact sports, may be necessary.
- Avoid antiplatelet medication, such as aspirin.
Drugs
- In general, no medications are needed.
- Antifibrinolytic agents (e.g. aminocaproic acid) may be useful for mucosal bleeding.
- For surgery or life-threatening haemorrhage, platelet transfusion is the only proven therapy but desmopressin and corticosteroids may be effective.5 Desmopressin has been shown to shorten the bleeding time in some, but not all, patients.6 It may be useful for minor bleeding episodes.
- Recently, recombinant activated factor VII has been used.1
- The patient may develop anti-platelet antibodies due to the presence of glycoproteins Ib/IX/V which are present on the transfused platelets but absent from the patient's own platelets.
- Therefore platelet transfusions should be reserved for surgery or potentially life-threatening bleeding.
The tendency to bleed easily lasts for life but may decrease as the patient gets older.
Document References
- Geil JD; Bernard-Soulier Syndrome. Emedicine; March 2006.
- OMIM; Giant Platelet Syndrome
- Prabu P, Parapia LA; Bernard-Soulier syndrome in pregnancy.; Clin Lab Haematol. 2006 Jun;28(3):198-201. [abstract]
- Linden MD, Frelinger AL 3rd, Barnard MR, et al; Application of flow cytometry to platelet disorders.; Semin Thromb Hemost. 2004 Oct;30(5):501-11. [abstract]
- Kostopanagiotou G, Siafaka I, Sikiotis C, et al; Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome.; J Clin Anesth. 2004 Sep;16(6):458-60. [abstract]
- Lopez JA et al; Bernard-Soulier syndrome. Blood. 1998 Jun 15;91(12):4397-418.
DocID: 1351
Document Version: 20
DocRef: bgp1916
Last Updated: 13 Oct 2006
Review Date: 12 Oct 2008
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