RESUMEN
AIM: Bernard-Soulier syndrome (BSS) is an inherited bleeding disorder characterized by macroplatelets and thrombocytopenia, prolonged bleeding time, and a prevalence of less than 1 in 1,000,000. In view of the recognition of the risk of bleeding and the management of daily surgical practice in these patients, adequate strategies are necessary to provide the safest care. This article aims to perform an integrative review of the literature on the management of invasive procedures in the oral cavity of individuals with BSS. METHOD: The PubMed/Medline and LILACS databases were searched using Boolean operators related to BSS, bleeding disorders, and oral care. RESULTS: As a result, only five articles with the main theme were included: one letter to the editor and four case reports, described chronologically as to date of publication, classification of the article, and medical/odontological measures taken. CONCLUSION: We conclude with this review the need for adequate knowledge of surgeons regarding coagulation disorders and the need to discuss and plan procedures with the hematology team, as well as the importance of the notion of management of possible complications resulting from invasive treatments in the oral cavity of patients with BSS.
Asunto(s)
Síndrome de Bernard-Soulier , Síndrome de Bernard-Soulier/complicaciones , Síndrome de Bernard-Soulier/terapia , Humanos , BocaRESUMEN
La trombocitopenia es causa frecuente de consulta en hematología pediátrica. La mayoría de veces la baja de plaquetas es por desorden de destrucción autoinmune, raramente el padecimiento tiene un comportamiento familiar-hereditario. Se presenta el caso de una paciente de 11 años de edad, conocida desde los 3 años por trombocitopenia en el rango de 50,000/mm , fue evaluada por posibilidad de desórdenes autoinmunescon estudios inmunológicos básicos: complementos, ANA, Anti ADN, factor reumatoide y los resultados fueron normales. Tratada en varias ocasiones con prednisona oral, antiRh y con inmunoglobulina intravenosa (IGIV). Se le ha brindado seguimiento prolongado por trombocitopenia que resultó ser familiar; encontrando doce afectados, que incluyen abuela materna, madre, tíos, primos y hermana. Las características clínicas y la morfología plaquetaria fueron finalmente suficientes para conducir a diagnóstico inusual: el síndrome de Bernard-Soulier (SBS). El diagnóstico fue sugerido por el frotis de sangre periférica (FSP)...
Asunto(s)
Humanos , Femenino , Niño , Enfermedades Hematológicas , Síndrome de Bernard-Soulier/complicaciones , Trombocitopenia Neonatal Aloinmune/diagnóstico , Homocigoto , Glicoproteínas de Membrana PlaquetariaRESUMEN
Bernard-Soulier syndrome (BSS) is a rare congenital platelet disorder characterized by defective platelet adhesion and manifested by spontaneous and often profuse bleeding. Recombinant factor VIIa (rFVIIa) is a haemostatic agent licensed for the treatment of bleeding episodes in patients with haemophilia and inhibitors, which may represent a low-risk alternative to existing therapies in the management of patients with BSS. Here, we describe the use of rFVIIa for the treatment of three severe bleeding episodes in two patients with BSS. Data were extracted by automated searching of the international, Internet-based registry http://www.haemostasis.com . Patient 1, a 24-year-old woman, was admitted with severe epistaxis and hypotension. The diagnosis of BSS was confirmed by macrothrombocytopenia, absence of ristocetin-induced platelet agglutination (RIPA) and absence of glycoprotein (GP) Ibalpha and IX on the platelet surface. Epsilon aminocaproic acid (EACA; two 50-mg/kg doses), packed red blood cells (PRBCs, 2 U) and platelets (30 U) failed to control the bleeding and, after 13 h, three bolus doses of rFVIIa (90 microg/kg body weight) and a third dose of EACA were administered; bleeding stopped after the third dose of rFVIIa. Patient 2, a 15-year-old girl, initially presented with severe menorrhagia. A lack of RIPA and severe deficiency of GPIbalpha on the platelet surface confirmed the diagnosis of BSS. EACA and fresh-frozen plasma did not control the haemorrhage, but two bolus doses of rFVIIa (98 microg/kg body weight) resulted in a marked decrease in bleeding. On second admission, patient 2 had severe epistaxis and mild menorrhagia. Two rFVIIa doses (98 and 122.5 microg/kg body weight) were given, and the bleeding stopped. No adverse events were reported in these cases. These three admissions highlight the potential of rFVIIa for the treatment of severe bleeds in patients with BSS.
Asunto(s)
Ácido Aminocaproico/administración & dosificación , Antifibrinolíticos/administración & dosificación , Síndrome de Bernard-Soulier , Epistaxis/terapia , Transfusión de Eritrocitos , Factor VII/administración & dosificación , Menorragia/terapia , Transfusión de Plaquetas , Adolescente , Adulto , Síndrome de Bernard-Soulier/complicaciones , Epistaxis/etiología , Factor VIIa , Femenino , Hemofilia A/tratamiento farmacológico , Humanos , Menorragia/etiología , Complejo GPIb-IX de Glicoproteína Plaquetaria , Glicoproteínas de Membrana Plaquetaria/deficiencia , Proteínas Recombinantes/administración & dosificaciónRESUMEN
Shear-induced aggregation requires the platelet glycoprotein complexes (Gp), the von Willebrand factor (vWf) and ADP. The Bernard Soulier syndrome (BS) and the gray platelet syndrome (GPS) are platelet function defects characterized by absence of GP Ib/IX and alpha granules, respectively, with mucocutaneous hemorrhages, prolonged bleeding time (BT) and moderate thrombocytopenia in both syndromes. There are reports that desmopressin (DDAVP) shortens the BT in some patients with platelet dysfunction. The purpose of this study was to evaluate the response t(DDAVP) in four female patients (2 with GPS plus Marfan's disease and 2 BS). All had bleeding episodes, BTs > 10 minutes, platelet counts (PC) between 40-88 x 10(9)/L and defects in platelet aggregation. The DDAVP was administered at a dose of 0.3 microgram/kg in 15 to 30 mL of isotonic saline given by slow intravenous drip in 30 to 45 min. All patients were studied before and after DDAVP administration (BT, PC, platelet factor, mean platelet volume, factors F.VIII:C, FvW:Ag, FvW:RiC of, and platelet aggregation). After DDAVP infusion the patients had a BT < 6 min, and increased levels of F. VIII:C, FvW:Ag and FvW:RiC of (> 100 Ul/dL), and the bleeding disappeared. We conclude that there was a good response to DDAVP probably associated with improved platelet adhesion, and increases in the multimers of the von Willebrand factor.
Asunto(s)
Síndrome de Bernard-Soulier/tratamiento farmacológico , Desamino Arginina Vasopresina/uso terapéutico , Adolescente , Adulto , Síndrome de Bernard-Soulier/sangre , Síndrome de Bernard-Soulier/complicaciones , Síndrome de Bernard-Soulier/genética , Biopolímeros , Tiempo de Sangría , Desamino Arginina Vasopresina/farmacología , Evaluación de Medicamentos , Femenino , Humanos , Síndrome de Marfan/complicaciones , Persona de Mediana Edad , Adhesividad Plaquetaria/efectos de los fármacos , Agregación Plaquetaria/efectos de los fármacos , Deficiencia de Almacenamiento del Pool Plaquetario/sangre , Deficiencia de Almacenamiento del Pool Plaquetario/complicaciones , Deficiencia de Almacenamiento del Pool Plaquetario/genética , Estudios Prospectivos , Síndrome , Factor de von Willebrand/metabolismoRESUMEN
Objetivo: Chamar a atençäo dos pediatras para uma causa rara de epistaxes severas de repetiçäo. Métodos: Os autoes descrevem um caso de criança com Síndrome de Bernard-Soulieur e fazem uma revisäo de relatos da Síndrome em língua inglesa existentes no MEDLINE desde 1970. Resultados: É descrito um menino de 3 anos e 3 meses, com quadro de epistaxes volumosas de repetiçäo, com importante repercussäo emodinâmica, no qual foram necessárias várias transfusöes de sangue e hemoderivados. Foram estabelecidas diversas suspeitas diagnósticas até que, pelo exame de sangue periférico, identificaram-se macroplaquetas. o diagnóstico final foi de Síndrome de Bernard-Soulieur, e procedeu-se à embolizaçäo da artéria maxilar para solucionar as epistaxes de repetiçä ...