Description clinique et biologique d’une population de patients réunionnais porteurs d’une même mutation fondatrice responsable du syndrome de Bernard-Soulier

Abstract : Bernard Soulier syndrom is a rare congenital thrombopathy (1/1000000) due to platelet surface protein deficiency: GpIb-IX-V. Its prevalence is found much higher on the island of Reunion. The aim of this study was to characterize patients with biological and clinical characteristics in order to highlight common features that can be used for diagnostic assistance. To date it has been diagnosed 13 homozygotes, from 7 different families, and 12 related heterozygotes. We can estimate a prevalence of 13 patients / 850000 inhabitants. Genetic analysis in the 25 patients showed that they carried the same mutation on the GP1BB gene. The study of family trees revealed a common ancestor dating back 10-14 generations. Patients' clinical and laboratory data were retrospectively collected from medical records, and bleeding episodes classified by severity according to the questionnaire provided by the international thrombosis and haemostasis company. The most common and severe bleeds in homozygotes were epistaxis, postoperative bleeding, and menorrhagia. There is a heterogeneity in the severity of the hemorrhagic syndrome. Biologically, homozygous patients had moderate macro-thrombocytopenia contrasting with the importance of the hemorrhagic syndrome. Heterozygote patients had generally minor thrombocytopenia with some macroplatelets in the smear. According to the results of the cytometry, the homozygous patients had a surface expression of the GPIb-XI-V glycoprotein collapsed in a statistically significant manner. Heterozygote patients also had a statistically significant decrease in GpIb-XI-V surface expression compared to controls, but less than homozygous patients.
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Master Thesis
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Submitted on : Wednesday, April 3, 2019 - 11:22:53 AM
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Céline de Thoré. Description clinique et biologique d’une population de patients réunionnais porteurs d’une même mutation fondatrice responsable du syndrome de Bernard-Soulier. Médecine humaine et pathologie. 2018. ⟨dumas-02088847⟩

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