Title:Clinical Dilemma, Bernard Soulier Syndrome versus Immune Thrombocytopenic
Purpura: A Case Report
Volume: 23
Issue: 1
Author(s): Bhavya J, Nitish Kumar Patel, Nilesh Kumar, Jitendra Singh*Kailash Kumar
Affiliation:
- Department of General Medicine, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh,
India
Keywords:
ITP, immune thrombocytopenic purpura, thrombocytopenia, giant platelet, macrothrombocytopenia, glycoprotein GPIb-V-IX complex, platelet function disorder.
Abstract:
Background: Bernard Soulier Syndrome (BSS) is a rare autosomal recessive disorder due
to deficiency or dysfunction of the glycoprotein GPIb-V-IX complex on the platelet surface. It is
also known as hemorrhagiparous thrombocytic dystrophy or congenital hemorrhagiparous thrombocytic
dystrophy. The patient usually presents with severe and prolonged bleeding along with characteristics
of giant blood platelets and low platelet counts. Manifestations of BSS include epistaxis,
gum bleeding, purpuric rashes, menorrhagia, rarely melena, and hematemesis. On the other hand,
immune thrombocytopenic purpura (ITP) is an acquired autoimmune disorder in which there is accelerated
platelet destruction and reduced platelet production. Isolated thrombocytopenia without
fever, lymphadenopathy, and organomegaly usually lead to the diagnosis of immune thrombocytopenia.
Case Presentation: A 20 years old female presented with complaints of recurrent episodes of epistaxis
since childhood and menorrhagia during menarche. She was misdiagnosed as ITP elsewhere.
Later, based on thorough clinical examination and investigation, the diagnosis was confirmed as
BSS.
Conclusion: BSS should always be taken in the differential diagnosis of ITP, especially when persistent,
refractory, and treated unsuccessfully with steroids or splenectomy.
