Bernard-Soulier syndrome

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Summary of Bernard-Soulier syndrome

Bernard–Soulier syndrome is a rare autosomal recessive coagulopathy that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor, an important glycoprotein involved in platelet plug formation. Bernard–Soulier syndrome is characterized by prolonged bleeding time, thrombocytopenia, increased megakaryocytes, and enlarged platelets.

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Bernard-Soulier syndrome

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NOTES NOTES PLATELET DISORDERS GENERALLY, WHAT ARE THEY? PATHOLOGY & CAUSES ▪ Platelet dysfunction, impaired hemostasis, bleeding RISK FACTORS DIAGNOSIS LAB RESULTS ▪ Complete blood count (CBC) ▪ Clotting studies (e.g. bleeding time) ▪ Platelet function tests ▪ Children of parents who are close relatives (consanguineous) COMPLICATIONS ▪ Mild to severe hemorrhage SIGNS & SYMPTOMS ▪ Mucocutaneous bleeding ▪ Excessive bruising/bleeding after minor trauma ▪ Immediate, excessive bleeding with invasive procedures TREATMENT ▪ Manage spontaneous/trauma-related bleeding episodes MEDICATIONS ▪ ▪ ▪ ▪ Anti-ﬁbrinolytic therapy Platelet transfusions Avoid antiplatelet medications Corticosteroids, immunosuppressants BERNARD–SOULIER SYNDROME (BSS) osms.it/bernard-soulier-syndrome PATHOLOGY & CAUSES ▪ Rare, inherited clotting disorder; mild thrombocytopenia, macrothrombocytopenia (giant platelets), platelet dysfunction, bleeding CAUSES ▪ Autosomal recessive inheritance pattern 444 OSMOSIS.ORG ▪ Platelets lack essential glycoprotein Ib-IX-V complex (GPIb) → impaired hemostasis → bleeding RISK FACTORS ▪ Prevalence in individuals of Mediterranean descent ▪ Children of parents who are close relatives (consanguineous)

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Bernard-Soulier syndrome

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A 14-year-old girl comes to the pediatrician's office because of recurrent nose bleeding. Her medical history is relevant for heavy menstrual bleeding and easy bruising. Upon further interrogation, the patient mentions that she always bleeds when she brushes her teeth. Physical exam shows purple discolored spots on her right leg that do not blanch on applying pressure and petechial rash over her face. Her temperature is 36.8°C (98.2°F), pulse is 106/min, respirations are 16/min, blood pressure is 90/70 mmHg. Laboratory studies show moderate thrombocytopenia and prolonged bleeding time. A peripheral blood smear is obtained and shows the presence of multiple large platelets.

Which of the following abnormalities is the most likely cause of these findings?

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