Bernard–Soulier syndrome

Bernard-Soulier syndrome
Classification and external resources
Specialty hematology
ICD-10 D69.1
ICD-9-CM 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, 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.[2]

BSS is a giant platelet disorder, meaning that it is characterized by abnormally large platelets.

Signs and symptoms

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

Diagnosis

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 glycoprotein 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have been reversed in BSS mice by expression of an α-subunit of GPIb in which most of the extracytoplasmic sequence has been replaced by an isolated domain of the α-subunit of the human IL-4 receptor but in which the cytoplasmic sequence is normal.[4]

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.[5]

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
Haemophilia 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

Genetics

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

There are three forms:[6]

Eponym

The syndrome is named after Dr. Jean Bernard and Dr. Jean Pierre Soulier.[7][8]

References

  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. ↑ Kanaji, T; Russell, S; Ware, J (Sep 15, 2002). "Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome.". Blood 100 (6): 2102–7. doi:10.1182/blood-2002-03-0997. PMID 12200373.
  5. ↑ 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 (help)).
  6. ↑ Online 'Mendelian Inheritance in Man' (OMIM) GIANT PLATELET SYNDROME -231200
  7. ↑ synd/2075 at Who Named It?
  8. ↑ 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

See also

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