[Inherited bleeding disorders in adolescents with excessive menstrual bleeding. Should we evaluate the fibrinolytic pathway?] / Trastornos hereditarios de la coagulación en adolescentes con sangrado menstrual excesivo, ¿debemos evaluar la vía fibrinolítica?

INTRODUCTION: Heavy Menstrual Bleeding (EMB) is a frequent problem in adolescence. The prevalence of inherited bleeding disorders (IBD) as a cause of EMB is not well established and the involvement of fibri nolytic pathway defects has been poorly explored. OBJECTIVE: To determine the prevalence of IBD and fibrinolysis defects in adolescents with EMBs. PATIENTS AND METHOD: 93 adolescents (11 to 18 years old) were included. Personal and family history of bleeding were obtained through a standard ized questionnaire. The following lab tests were performed: prothrombin time (PT), activated partial thromboplastin time (aPTT), von Willebrand factor quantification, and platelet count and function. Those patients who were not diagnosed with IBD were further evaluated with clot lysis time assay. RESULTS: 41 patients (44%) were diagnosed as IBD (Von Willebrand disease n = 28, platelet func tion defects n=8, mild hemophilia n = 5. Decreased clot lysis time was found in 31 patients. 54% of patients diagnosed with IBD had EMB as the first hemorrhagic manifestation. CONCLUSION: These results support the need to evaluate the coagulation process, including the fibrinolytic pathway in the study of adolescents with EMB.

Trastornos hereditarios de la coagulación en adolescentes con sangrado menstrual excesivo, ¿debemos evaluar la vía fibrinolítica? / Inherited bleeding disorders in adolescents with excessive menstrual bleeding: should we evaluate the fibrinolytic pathway?

Resumen: Introducción: El Sangrado Menstrual Excesivo (SME) es un problema frecuente en la adolescencia. La prevalencia de trastornos hereditarios de la coagulación (THC) como causa del SME no está bien establecida y la participación de defectos de la vía fibrinolítica ha sido poco explorada. Objetivo: Determinar la prevalencia de THC y defectos de la fibrinólisis en adolescentes con SME. Pacientes y Método: Se incluyeron 93 adolescentes, edad 11 a 18 años. Los antecedentes personales y familiares de sangra do se obtuvieron con un cuestionario estandarizado. Se controló exámenes: tiempo de protrom- bina (TP), tiempo de tromboplastina parcial activada (TTPa), estudio del factor Von Willebrand, recuento y función plaquetaria. Los pacientes que no fueron diagnosticados como THC, se evaluaron adicionalmente con el tiempo de lisis del coágulo. Resultados: 41 pacientes (44%) fueron diagnos ticados como THC: Enfermedad de Von Willebrand n = 28, defectos de la función plaquetaria n = 8, hemofilia leve n = 5. Se confirmó disminución del tiempo de lisis del coágulo en 31 pacientes. El 54% de pacientes diagnosticado como THC, tuvo SME como la primera manifestación hemorrágica. Conclusión: Estos resultados apoyan la necesidad de evaluación de la coagulación, incluyendo la vía fibrinolítica, en el estudio de adolescentes con SME.

Abstract: Introduction: Heavy Menstrual Bleeding (EMB) is a frequent problem in adolescence. The prevalence of inherited bleeding disorders (IBD) as a cause of EMB is not well established and the involvement of fibri nolytic pathway defects has been poorly explored. Objective: To determine the prevalence of IBD and fibrinolysis defects in adolescents with EMBs. Patients and Method: 93 adolescents (11 to 18 years old) were included. Personal and family history of bleeding were obtained through a standard ized questionnaire. The following lab tests were performed: prothrombin time (PT), activated partial thromboplastin time (aPTT), von Willebrand factor quantification, and platelet count and function. Those patients who were not diagnosed with IBD were further evaluated with clot lysis time assay. Results: 41 patients (44%) were diagnosed as IBD (Von Willebrand disease n = 28, platelet func tion defects n=8, mild hemophilia n = 5. Decreased clot lysis time was found in 31 patients. 54% of patients diagnosed with IBD had EMB as the first hemorrhagic manifestation. Conclusion: These results support the need to evaluate the coagulation process, including the fibrinolytic pathway in the study of adolescents with EMB.

An Unexpectedly High Rate of Thrombophilia Disorders in Patients with Superficial Vein Thrombosis of the Lower Extremities.

BACKGROUND: Superficial vein thrombosis (SVT) is a common venous condition. Recent studies have shown that SVT is associated with high frequency of thromboembolic complications: from 22-37% for deep venous thrombosis and up to 33% for pulmonary embolism. Our goal was to assess the prevalence of major hereditary and acquired thrombophilic factors in patients with SVT. METHODS: Sixty-six patients presenting with primary SVT underwent evaluation for thrombophilia: molecular testing for the factor V Leiden and factor II G20210 A (prothrombin) mutations, protein C, protein S, antithrombin deficiency, presence of lupus anticoagulant, as well as anticardiolipin antibody titers. Patients aged less than 18 years, with confirmed deep vein thrombosis, and pregnant women were excluded. RESULTS: 95.5% were Caucasian, and 62.1% were female gender. Age ranged from 21-88 years. Molecular testing showed that 34.2% of patients were heterozygous for factor V Leiden, 23.6% were heterozygous for the factor II mutation, 7.8% had antithrombin deficiency, 2.6% had protein S deficiency, and 2.1% had protein C deficiency. CONCLUSIONS: Our study showed that hereditary and acquired thrombophilias are higher than previously expected and reported.

Registry of inherited coagulopathies in Brazil: first report.

Inherited coagulopathies are bleeding disorders, which require treatment for life. Keeping an updated registry on these diseases is crucial for planning care, documenting prevalence of diseases and evaluating effectiveness of resources. We have analysed data from 26 treatment centres on coagulopathies in Brazil. Information included socio-demographic data, diagnosis of coagulopathies, severity of haemophilias A and B, presence and quantification of inhibitors in haemophilia, type of von Willebrand disease (VWD) and infection status for viral diseases. On 1 July 2007, there were 10 982 patients with inherited coagulopathies in Brazil, of which 6881 (62.7%) corresponded to haemophilia A, 1291 (11.7%) to haemophilia B, 2333 (21.2%) to VWD, 258 (2.4%) to other coagulopathies and 219 (2.0%) to undiagnosed bleeding disorders. Haemophilia A and B inhibitors were present in 9.9% and 1.9% of the patients, respectively. Human immunodeficiency virus infection was present is 6.5%, 4.8% and 1% of patients with haemophilia A, B and VWD, respectively. Hepatitis C virus infection was present in 34.9%, 29.7% and 12% of patients with haemophilia A, B and VWD, respectively. Infection by hepatitis B and human T-cell leukemia-lymphoma virus was also reported. This is the first report on the registry of patients with inherited coagulopathies in Brazil, supposed to be the third largest population of patients with haemophilia.

Neonatal renal venous thrombosis: clinical outcomes and prevalence of prothrombotic disorders.

OBJECTIVE: To determine clinical outcomes and the prevalence of prothrombotic conditions in patients who had neonatal renal venous thrombosis (RVT). STUDY DESIGN: A retrospective cohort of neonates with RVT who were admitted to 4 pediatric centers from 1980 to 2001 was identified. Information on clinical presentation, laboratory and radiological investigation, and treatment were abstracted. Survivors were evaluated for renal status and prothrombotic conditions. RESULTS: Forty-three patients with neonatal RVT were identified. RVT was unilateral in 24 patients (56%) and associated with 2thrombi at other sites in 32 patienets (74%). Clinical presentations included renal failure in 24 patients (56%), thrombocytopenia, anemia, or both in 22 patients (51%), and renal mass in 21 patients (49%). Neonatal interventions included anti-coagulants in 28 patients (65%), antihypertensive medications in 9 patients (21%), peritoneal dialysis in 2 patients (5%), and nephrectomy in 2 patients (5%). The median age at follow-up was 3.7 years (range, 0.5-20.2 years). Thirteen patients (34%) had hypertension, and 11 patients (29%) had renal failure. End-stage renal disease developed in 3 patients, and they underwent live-related renal transplants. Twelve of the 28 patients (43%) examined had prothrombotic abnormalities. CONCLUSION: Neonatal RVT is associated with significant renal morbidity and a high prevalence of prothrombotic abnormalities.