Bernard-Soulier syndrome: Difference between revisions

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* There is no specific treatment for Bernard-Soulier syndrome; the mainstay of therapy is supportive care.
* There is no specific treatment for Bernard-Soulier syndrome; the mainstay of therapy is supportive care.


* Pharmacologic medical therapy is recommended among patients with Bleeding episodes with the following
* Pharmacologic medical therapy is recommended among patients with Bleeding episodes with the following<ref name="pmid18278172">{{cite journal |vauthors=Nurden P, Nurden AT |title=Congenital disorders associated with platelet dysfunctions |journal=Thromb. Haemost. |volume=99 |issue=2 |pages=253–63 |date=February 2008 |pmid=18278172 |doi=10.1160/TH07-09-0568 |url=}}</ref>


==== Antifibrinolytic agents ====
==== Antifibrinolytic agents ====

Revision as of 13:43, 20 August 2018

Bernard-Soulier syndrome
Bernard-Soulier syndrome.
(Image courtesy of Melih Aktan M.D.)
ICD-10 D69.1
ICD-9 287.1
OMIM 231200
DiseasesDB 1356
eMedicine ped/230 
MeSH D001606

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List of terms related to Bernard-Soulier syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and keywords:

Overview

Bernard-Soulier syndrome (BSS) belongs to one the rare hereditary platelet disorders.Bernard-Soulier syndrome chaterstically shows giant platelets and thrombocytopenia.Bernard-Soulier syndrome (BSS) was first discovered in 1948.Bernard-Soulier syndrome may be classified into 4 subtypes.Bernard-Soulier syndrome is the result of the absence or decreased expression of the GPIb/IX/V complex on the surface of the platelets.Bernard-Soulier syndrome may be caused by abnormality in the genes for glycoprotein Ib/IX/V.The prevalence of Bernard-Soulier syndrome is approximately 1 per 100,000 individuals worldwide.The initial laboratory test to be done is blood cell counts and blood smears.There are no established risk factors for Bernard-Soulier syndrome.There is sufficient evidence to recommend routine screening for Bernard-Soulier syndrome with newer technologies in current clinical practice.If left untreated, patients with Bernard-Soulier syndrome may progress to develop bleeding manifestations like mucocutaneous bleedings, prolonged bleeding.Patients with bernard soulier syndrome usually remarkable for dysfunctional platelets.There is no specific treatment for Bernard-Soulier syndrome, the mainstay of therapy is supportive care.

Historical Perspective

Classification

Bernard soulier syndrome may be classified into 4 subtypes[8][9][10][11][12][13]

Phenotype Location Inheritance Gene Locus

MIM number

Bernard-Soulier syndrome, type A1 17p13.2 Autosomal Recessive GP1BA 606672
Bernard-Soulier syndrome, type B 22q11.21 Autosomal Recessive GP1BB 138720
Bernard-Soulier syndrome, type C 3q21.3 Autosomal Recessive GP9 173515
Giant platelet disorder, isolated 22q11.21 Autosomal Recessive GP1BB 138720

Pathophysiology

Causes

Differentiating Bernard-Soulier syndrome from Other Disease

Epidemiology and Demographics

  • Bernard-Soulier syndrome usually very rare that until now only ~100 cases have been reported.
  • The severity of Bernard-Soulier syndrome increases with age.
  • Bernard-Soulier syndrome commonly affects infants than younger and older people.
  • Bernard-Soulier syndrome usually affects individuals of the Japan, Europe and North America.
  • In Bernard-Soulier syndrome patients males and females are affected with equal frequency.
  • The majority of Bernard-Soulier syndrome cases are reported in whites of European ancestry.

Risk Factors

Screening

  • There is sufficient evidence to recommend routine screening for Bernard-Soulier syndrome with newer technologies in current clinical practice like the following.[69][70]

PFA-100(Platelet Function Analyzer)

Ultegra

Natural History, Complications, and Prognosis

  • Prognosis is generally good in patients with Bernard-Soulier syndrome is but it is widely based on the severity of the condition.

Diagnosis

Diagnostic Study of Choice

  • CD42 a-d a monoclonal antibody detected in flow cytometry also helps in the diagnosis and confirmation of the diagnosis in the patients with Bernard-Soulier syndrome.
  • Genetic abnormalities testing also aid in the diagnosing the patients with Bernard-Soulier syndrome.
  • Immunoblotting also helps in diagnosing Bernard-Soulier syndrome.
  • Other new tests like platelet glycoprotein analysis by SDS-polyacrylamide gel separation are the news tests in the research which proves that in the diagnosis of the patients with the Bernard-Soulier syndrome.

History and Symptoms

The majority of patients with bernard soulier syndrome shows the following symptoms:

Common Symptoms

Common symptoms of bernard soulier syndrome patients include:[77][78][79][80][81][82]

Less Common Symptoms

Less common symptoms of bernard soulier syndrome patients include:[83][84][85]

Physical Examination

  • Patients with bernard soulier syndrome usually remarkable for dysfunctional platelets an include

Laboratory Findings

  • CD42 a-d a monoclonal antibody detected in flow cytometry also helps in the diagnosis and confirmation of the diagnosis in the patients with Bernard-Soulier syndrome.
  • Genetic abnormalities testing also aid in the diagnosing the patients with Bernard-Soulier syndrome.
  • Immunoblotting also helps in diagnosing Bernard-Soulier syndrome.
  • Other new tests like platelet glycoprotein analysis by SDS-polyacrylamide gel separation are the news tests in the research which proves that in the diagnosis of the patients with Bernard-Soulier syndrome.

Electrocardiogram

  • There are no ECG findings associated with Bernard-Soulier syndrome.

X-ray

  • There are no x-ray findings associated with bernard soulier syndrome.

Echocardiography or Ultrasound

  • There are no ultrasound findings associated with the Bernard-Soulier syndrome.

CT scan

  • There are no CT scan findings associated with bernard soulier syndrome.

MRI

  • There are no MRI findings associated with the Bernard-Soulier syndrome.

Medical Therapy

  • There is no specific treatment for Bernard-Soulier syndrome; the mainstay of therapy is supportive care.
  • Pharmacologic medical therapy is recommended among patients with Bleeding episodes with the following[94]

Antifibrinolytic agents

  • Both are very effective in controlling the mucosal bleeding

Platelet transfusion

Desmopressin acetate (DDAVP)

Surgery

  • Surgical intervention is not recommended for the management of Bernard-Soulier syndrome

Primary Prevention

  • There are no established measures for the primary prevention of the Bernard-Soulier syndrome.

Secondary Prevention

References

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