# Bernard-Soulier Syndrome: Case Studies From Morocco

## TL;DR

This study reports seven cases of Bernard-Soulier syndrome in Morocco, highlighting its diagnosis and clinical features.

## Contribution

The study provides new insights into the prevalence and characteristics of Bernard-Soulier syndrome in a Moroccan population.

## Key findings

- Seven cases of Bernard-Soulier syndrome were identified over four years in Morocco.
- Most cases were constitutional, with one case of acquired BSS.
- Common features included thrombocytopenia, macroplatelets, and normal hemostasis.

## Abstract

Introduction: Bernard-Soulier syndrome (BSS) is a rare thrombopathy with only a few hundred cases reported in the medical literature. This study aims to highlight the diagnosis of this thrombopathy by platelet aggregometry at the central hematology laboratory of Centre Hospitalo-Universitaire Ibn Sina in Rabat.

Materials and methods: We conducted a retrospective, descriptive study of BSS patients diagnosed in our laboratory over a four-year period, from 2020 to 2024. The study was based on the results of blood count and platelet aggregometry performed on platelet-rich plasma using the APACT 4004 device (LABiTec® Labor BioMedical Technologies GmbH, Ahrensburg, Germany).

Results: Out of 268 platelet aggregation tests, seven patients had an aggregometric profile compatible with BSS. The mean age was 21 years, with a sex ratio of 2.5. Second-degree consanguinity was found in six cases. Clinically, six patients had a history of hemorrhage since early childhood, while only one patient presented with non-traumatic hemarthrosis at an advanced age compatible with acquired BSS. Biologically, all patients had a normal hemostasis profile. Microcytic hypochromic anemia was observed in four cases. All had thrombocytopenia, except in one case where thrombocytosis was observed. Blood smears showed macroplatelets in all patients. Platelet aggregation showed a normal response to all inducers (adenosine diphosphate, collagen, and arachidonic acid) except ristocetin. Based on these epidemiologic and clinicobiologic data, the diagnosis of constitutional BSS was established in six patients, while only one case was idiopathic acquired BSS.

Conclusions: Our study demonstrated that BSS is a thrombopathy that can be either constitutional or acquired, with a relatively high prevalence in Morocco, and should not be underestimated.