Hematopoietic Stem-Cell Transplantation for the Bernard–Soulier Syndrome
Authors: Franco Locatelli, Gabriele Rossi, Carlo Balduini
Journal: Annals of Internal Medicine (2003)

Letters7 January 2003Hematopoietic Stem-Cell Transplantation for the Bernard–Soulier SyndromeFranco Locatelli, MD, Gabriele Rossi, MD, and Carlo Balduini, MDFranco Locatelli, MDUniversit di Pavia, 27100 Pavia, Italy (Locatelli, Rossi, Balduini), Gabriele Rossi, MDUniversit di Pavia, 27100 Pavia, Italy (Locatelli, Rossi, Balduini), and Carlo Balduini, MDUniversit di Pavia, 27100 Pavia, Italy (Locatelli, Rossi, Balduini)Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-138-1-200301070-00028 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:The Bernard–Soulier syndrome is a hereditary platelet disorder caused by qualitative or quantitative abnormality of the glycoprotein Ib/IX/V complex, the platelet receptor for von Willebrand factor (1). The clinical course of the disease is often mild. However, rarely, some patients experience repeated, life-threatening hemorrhages. We present two cases of the Bernard-Soulier syndrome successfully treated with hematopoietic stem-cell transplantation.Two sisters received diagnoses of the Bernard–Soulier syndrome after a history of spontaneous bruising since birth. Laboratory tests showed thrombocytopenia, with giant platelets lacking the glycoprotein Ib/IX/V complex. At the age of 5 years, one girl developed intracerebral hemorrhage ...References1. Lpez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood. 1998;91:4397-418. [PMID: 9616133] CrossrefMedlineGoogle Scholar2. Giralt S, Estey E, Albitar M, van Besien K, Rondn G, Anderlini P, . Engraftment of allogeneic hematopoietic progenitor cells with purine analog-containing chemotherapy: harnessing graft-versus-leukemia without myeloablative therapy. Blood. 1997;89:4531-6. [PMID: 9192777] CrossrefMedlineGoogle Scholar3. Iolascon A, Sabato V, de Mattia D, Locatelli F. Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II). Bone Marrow Transplant. 2001;27:213-5. [PMID: 11281393] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Universit di Pavia, 27100 Pavia, Italy (Locatelli, Rossi, Balduini) PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByInherited thrombocytopenias: an updated guide for cliniciansMiniaturized 3D bone marrow tissue model to assess response to Thrombopoietin-receptor agonists in patientsLearning the Ropes of Platelet Count Regulation: Inherited ThrombocytopeniasCare of a Toddler with Epistaxis and Bernard-Soulier SyndromeClinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseasesHow we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adultsInherited ThrombocytopeniasInherited platelet function disordersExcessive Bleeding with Normal Prothrombin Time, Partial Thromboplastin Time, and Platelet CountPathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonistsInherited platelet disorders and oral healthBernard-Soulier syndrome complicated with intracerebral hemorrhage: a case reportCorrection of Murine Bernard–Soulier Syndrome by Lentivirus-mediated Gene TherapyInherited thrombocytopeniasEltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutationsModern management of severe platelet function disordersCongenital Platelet DisordersBernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)Congenital macrothrombocytopeniasGiant platelet syndromeUse of recombinant factor VIIa in the management of severe bleeding episodes in patients with Bernard–Soulier syndromeGiant platelet syndromeTargeting platelet GPIbalpha transgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbbeta and GPIX 7 January 2003Volume 138, Issue 1Page: 79KeywordsBody weightFlow cytometryGlycoproteinsHemorrhageLaboratory testsMethotrexatePeritonitisPlateletsProphylaxisTransplantation ePublished: 7 January 2003 Issue Published: 7 January 2003 CopyrightCopyright © 2003 by American College of Physicians. All Rights Reserved.PDF DownloadLoading ...