Bernard–Soulier syndrome

Source: Wikipedia, the free encyclopedia.
Not to be confused with Brown-Séquard syndrome.
Bernard-Soulier syndrome
Other namesHemorrhagiparous thrombocytic dystrophy[1]
Bernard-Soulier syndrome has an autosomal recessive pattern of inheritance (rarely autosomal dominant).[2]
SpecialtyHematology Edit this on Wikidata
CausesMutations in GP1BA, GP1BB and GP9[3]
Diagnostic methodFlow cytometry analysis[1]
TreatmentPlatelet transfusion[4]

Bernard–Soulier syndrome (BSS) is a rare

autosomal recessive bleeding disorder that is caused by a deficiency of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the receptor for von Willebrand factor.[5] 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.[6]

Signs and symptoms

Bernard–Soulier syndrome often presents as a

bleeding disorder with symptoms of:[7]

  • Perioperative (and postoperative) bleeding
  • Bleeding gums
  • Bruising
  • Epistaxis
    (nosebleeds)
  • Abnormal bleeding (from small injuries)
  • Unusual menstrual periods

Genetics

In regards to mechanism, there are three genes:

platelets adhere to a site of injury which eventually helps stop bleeding.[2]

Diagnosis

Megakaryocytes (arrows)

In terms of diagnosis Bernard–Soulier syndrome is characterized by prolonged bleeding time,

filamin A binding site that links the GPIb-IX-V complex to the platelet membrane skeleton.[5][8]

Differential diagnosis

The differential diagnosis for Bernard–Soulier syndrome includes both

Glanzmann thrombasthenia and pediatric Von Willebrand disease.[5] 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.[4]
Following is a table comparing its result with other platelet aggregation disorders:

Platelet aggregation function by main disorders and agonists   edit
Further information: Platelet § Tests of function
ADP Epinephrine Collagen Ristocetin
P2Y receptor inhibitor or defect[9] Decreased Normal Normal Normal
Adrenergic receptor defect[9] Normal Decreased Normal Normal
Collagen receptor defect[9] Normal Normal Decreased or absent Normal
Normal Normal Normal Decreased or absent
Decreased Decreased Decreased Normal or decreased

Treatment

Tranexamic acid

Bleeding events 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.[4] In the event of an individual with mucosal bleeding tranexamic acid can be given.[5]

The affected individual may need to avoid contact sports and medications such as

antibodies.[10]

Prevalence

The frequency of Bernard–Soulier syndrome is approximately 1 in 1,000,000 people.[11] The syndrome, identified in the year 1948, is named after Dr. Jean Bernard and Dr. Jean Pierre Soulier.[12]

See also

References

  1. ^
    PMID 17109744
    .
  2. ^ a b Reference, Genetics Home. "Bernard-Soulier syndrome". Genetics Home Reference. Retrieved 17 July 2016.
  3. ^ a b Online Mendelian Inheritance in Man (OMIM): GIANT PLATELET SYNDROME - 231200
  4. ^
    PMID 18081445
    .
  5. ^ a b c d "Bernard-Soulier Syndrome: Practice Essentials, Background, Pathophysiology and Etiology". 2018-09-13. {{cite journal}}: Cite journal requires |journal= (help)
  6. PMID 10664620
    .
  7. ^ Dugdale, David. "Congenital platelet function defects". NIH. Retrieved 13 October 2012.
  8. S2CID 25130678
    .
  9. ^
    PMID 20822539
    .
  10. ^ "Bernard-Soulier Syndrome; BSS & giant platelet information. Patient | Patient". Patient. 20 April 2011. Retrieved 17 July 2016.
  11. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Bernard Soulier syndrome". www.orpha.net. Retrieved 2016-07-17.{{cite web}}: CS1 maint: numeric names: authors list (link)
  12. PMC 1476743
    .

Further reading

External links

Scholia has a topic profile for Bernard–Soulier syndrome.
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