Bernard-Soulier Syndrome: Case Studies From Morocco

Area of Science:

• Hematology
• Clinical Pathology

Background:

• Bernard-Soulier syndrome (BSS) is a rare inherited thrombopathy.
• Few cases are documented globally, making diagnosis challenging.

Purpose of the Study:

• To emphasize the diagnostic role of platelet aggregometry for BSS.
• To report BSS cases diagnosed at a central hematology laboratory in Rabat.

Main Methods:

• Retrospective descriptive study (2020-2024).
• Analysis of blood counts and platelet aggregometry data.
• Utilized APACT 4004 device for platelet-rich plasma analysis.

Main Results:

• Seven BSS cases identified out of 268 tests.
• Mean age 21, male predominance (sex ratio 2.5), high consanguinity (6/7).
• Characteristic macroplatelets and abnormal ristocetin aggregation; normal response to other inducers.

Conclusions:

• BSS can be constitutional or acquired.
• Diagnosis relies on characteristic aggregometry findings.
• BSS prevalence in Morocco may be underestimated.