Bernard-Soulier syndrome

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Bernard-Soulier syndrome
Bernard-Soulier syndrome 0001.jpg
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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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: BSS, giant platelet syndrome; hemorrhagic parous thrombocytic dystrophy; macrothrombocytopenia, familial Bernard-Soulier type; platelet glycoprotein Ib deficiency; Von Willebrand factor receptor deficiency.

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 is 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

  • The prevalence of Bernard-Soulier syndrome is approximately 1 per 100,000 individuals worldwide.[65][66][67][68]
  • 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

  • There are no established risk factors for Bernard-Soulier syndrome.
  • Autosomal recessive genetic pattern was followed by Bernard-Soulier syndrome.
  • Risk of Bernard-Soulier syndrome patients can be a carrier when they receive the following
  • Risk of Bernard-Soulier syndrome in a child is 25% to 50% with each pregnancy when
    • Two carrier parents to both pass the abnormal gene.

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

  • If left untreated, patients with Bernard-Soulier syndrome may progress to develop bleeding manifestations like mucocutaneous bleedings, prolonged bleeding.[75]
  • Common complications of Bernard-Soulier syndrome include ante, intra, or postpartum hemorrhage in pregnant patients.[76]
  • 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

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:[81][82][83][84][85][86]

Less Common Symptoms

Less common symptoms of bernard soulier syndrome patients include:[87][88][89]

Physical Examination

Patients with Bernard-Soulier syndrome usually remarkable for dysfunctional platelets an include:

Laboratory Findings

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.

Treatment

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 include followings:[98]

Antifibrinolytic agents

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

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