ISSN : 2663-2187

Bernard Soulier Syndrome misdiagnosed as Von Willebrand Disease

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Dr Kshetra Challapalli , Dr Balaji Nallapati, Dr Jaya shankar Kimidi, Dr Vatsav Mandava, Dr Srinivasa Rajasekhar
» doi: 10.48047/AFJBS.6.14.2024.10841-10846

Abstract

Bernard–Soulier syndrome (BSS) is a hereditary bleeding disorder of platelet adhesion caused by defects in the glycoprotein (GP)Ib/IX/V complex. This complex is found on the surface of platelets and plays a vital role in blood clotting. A diagnosis is made by a combination of coagulation tests, flow cytometry, and aggregometry studies. We present a case of a 21-year-old patient who presented with bleeding from the nose, abdominal pain, and heavy menstrual bleeding. Patients have also reported a history of recurrent episodes of nasal and gum bleeding since childhood. On examination, the patient had pallor. Investigations show microcytic hypochromic anemia with anisopoikilocytosis, moderate thrombocytopenia, many giant cells & few small clumps seen on the smear. Flow cytometry shows the absence of CD42b and decreased ristocetin-induced platelet aggregometry. A diagnosis of Bernard-Soulier Syndrome was made. She was advised not to use any drugs inhibiting platelet function, and symptoms are medically managed. She was discharged by taking all necessary precautions.

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