Bernard–Soulier syndrome

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Bernard-Soulier syndrome
Classification and external resources
ICD-10 D69.1
ICD-9 287.1
OMIM 231200
DiseasesDB 1356
eMedicine ped/230
MeSH D001606

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.

Symptoms[edit]

As with other congenital platelet function defects, BSS often presents as a bleeding disorder with symptoms[3] of:

  • Perioperative and postoperative bleeding
  • Bleeding gums
  • Easy bruising
  • Heavy menstrual periods
  • Epistaxis
  • Abnormally prolonged bleeding from small injuries

Characteristics[edit]

Characterized by prolonged bleeding time, thrombocytopenia, increased megakaryocytes (bone marrow platelet progenitors), 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. 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.

It presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury.[4]

Laboratory findings in various platelet and coagulation disorders (V - T)
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
Hemophilia Unaffected Prolonged Unaffected Unaffected
Aspirin Unaffected Unaffected Prolonged Unaffected
Thrombocytopenia Unaffected Unaffected Prolonged Decreased
Liver failure, early Prolonged Unaffected Unaffected Unaffected
Liver failure, end-stage 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 or unaffected
Factor XII deficiency Unaffected Prolonged Unaffected Unaffected
C1INH deficiency Unaffected Shortened Unaffected Unaffected

2

Genetics[edit]

Bernard-Soulier syndrome has an autosomal recessive pattern of inheritance.

There are three forms:[5]

Eponym[edit]

The syndrome is named after Dr. Jean Bernard and Dr. Jean Pierre Soulier.[6][7]

References[edit]

  1. ^ 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. 
  2. ^ 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
  3. ^ Dugdale, David. "Congenital platelet function defects". NIH. Retrieved 13 October 2012. 
  4. ^ Pham A, Wang J (2007). "Bernard-Soulier syndrome: an inherited platelet disorder" (subscription required). Arch. Pathol. Lab. Med. 131 (12): 1834–6. doi:10.1043/1543-2165(2007)131[1834:BSAIPD]2.0.CO;2. PMID 18081445. 
  5. ^ Online 'Mendelian Inheritance in Man' (OMIM) GIANT PLATELET SYNDROME -231200
  6. ^ synd/2075 at Who Named It?
  7. ^ 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. 

External links[edit]

See also[edit]