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Quebec platelet disorder
Anwar Hussain Abbasi1, Quratulain Shaikh, Syed Ather Hussain
1Department of Medicine, The Aga Khan University Hospital, Karachi. anwar.abbasi@aku.edu
Insights
Quebec platelet disorder is a rare condition causing abnormal platelet function and increased bleeding. This case highlights the diagnostic importance of platelet aggregation testing, especially with epinephrine, in identifying this autosomal dominant disorder.
Area of Science:
- Hematology
- Genetics
- Internal Medicine
Background:
- Quebec platelet disorder (QPD) is a rare autosomal dominant inherited disorder affecting platelet function.
- It is characterized by a lifelong history of excessive bleeding, often presenting in childhood or after puberty.
Observation:
- A 33-year-old woman presented with a history of epistaxis, gum bleeding, menorrhagia, and postpartum hemorrhage.
- Her standard coagulation profile was within normal limits.
- Platelet function testing revealed abnormal platelet aggregation specifically in response to epinephrine.
Findings:
- The observed abnormal platelet aggregation pattern with epinephrine is characteristic of Quebec platelet disorder.
- This finding differentiates QPD from other inherited or acquired bleeding disorders with normal coagulation parameters.
Implications:
- Accurate diagnosis of Quebec platelet disorder is crucial for appropriate management and genetic counseling.
- Platelet aggregation assays, particularly with specific agonists like epinephrine, are vital diagnostic tools for identifying rare platelet function disorders.
- Understanding the specific platelet defect in QPD can inform future therapeutic strategies.
Abstract:
A case of Quebec platelet disorder is hereby reported. A 33 years old woman presented with history of epistaxis and gum bleeding since childhood and menorrhagia and bleeding per vaginum after puberty, also had history of excessive blood loss after birth of child. Her coagulation profile was normal but platelet function testing by platelet aggregation assay showed abnormal aggregation of platelet with epinephrine. This type of response is seen in "Quebec platelet disorder" which is a rare autosomal dominant disorder of platelet function characterized by increased bleeding after any injury or trauma.
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