Dental Considerations of Hereditary Bleeding Disorders in Children: An Overview

Introduction: Hereditary bleeding disorders are the diverse group of disorders that happen due to the inherent abnormalities in the blood vasculature preventing the blood clotting process and leading to delayed bleeding. Objectives: To review this heterogenous group of disorders and update the clinicians about their oral manifestations and dental management to prevent the onset of any complications in dental settings. Materials and Methods: Review papers, original studies, case reports published in PubMed/MEDLINE, Web of Science, Scopus, Science Direct, and Google Scholar, as well as numerous publications, were used to compile the data by four reviewers. Result and Conclusion: This review article explains the existing paradigm. Children with various hereditary bleeding disorders are a significant challenge for clinicians. Many authors have emphasized that patients with bleeding disorders can be managed safely in a dental setting if specific recommendations are followed.

Consenso mexicano para el diagnóstico y tratamiento de la trombastenia de Glanzmann / Mexican consensus on the diagnosis and treatment of Glanzmann thrombasthenia

Resumen Las plaquetas tienen un papel central en diferentes escenarios fisiológicos, incluyendo la hemostasia; se unen unas con otras en la agregación plaquetaria, lo cual permite formar un coágulo plaquetario. Para que la agregación sea apropiada se requiere del complejo glicoproteico IIb/IIIa (GPIIb/IIIa) en la superficie plaquetaria. Toda alteración funcional plaquetaria, hereditaria o adquirida, impide la formación adecuada del coágulo y se manifiesta como hemorragia. Las enfermedades plaquetarias hereditarias son raras y, hasta recientemente, fueron ignoradas. Una de las más reconocidas y estudiadas es la trombastenia de Glanzmann (TG), entidad en la cual el número de plaquetas puede ser normal pero la función está alterada. Es un padecimiento autosómico y recesivo que causa hemorragia de diferente intensidad toda la vida y en la cual el problema radica en precisamente en la GPIIb/IIIa. Las hemorragias son típicamente mucocutáneas: equimosis, púrpura, epistaxis, gingivorragia; menos frecuentes son la hemorragia gastrointestinal, hemartrosis o en sistema nervioso central. La hiperpolimenorrea es común en las mujeres y llega a ser tan importante que amerita transfusiones en la menarca. La TG afecta a todos los grupos étnicos y su prevalencia varía entre 1/40,000 y 1/400,000. A pesar de esta información acerca de la TG en el mundo, hay pocas guías o recomendaciones basadas en la opinión de expertos y experiencias unicéntricas. En México la TG es rara y no se cuenta con una recomendación general para su diagnóstico y tratamiento. El objetivo de este documento fue establecer un consenso y hacer sugerencias generales para su diagnóstico y tratamiento.

Abstract Platelets have a central role in several physiological scenarios including hemostasis. Platelets bind each other during platelet aggregation allowing the proper formation of the clot; to be appropriate, platelet aggregation requires the glycoproteic complex IIb/IIIa (GPIIb/IIIa). Every platelet function abnormality both, congenital or acquired, impedes clot formation and favors bleeding episodes. Hereditary platelet abnormalities are rare and, until recently, they were almost ignored. Among these disorders, Glanzmann Thrombasthenia (GT) is a widely recognized abnormality in which platelet counts may be normal, but their function is affected. GT is an autosomal, recessive disease that causes life-long bleeding of different intensity. Main biochemical abnormality resides in GPIIb/IIIa. Bleeding is typically mucocutaneous: easy bruising, purpura, and nose and gum bleeds; less frequently are gastrointestinal bleeds, hemarthrosis, or intracranial. Menorrhagia and hyperpolymenorrhea are common findings in in women and may be the cause of anemia requiring blood transfusions at fertile age. GT affects all ethnic groups and its prevalence ranges between 1/40,000 to 1/400,000. Despite this worldwide information regarding GT, only a few guidelines and recommendations have been published, most of them based on expert opinions. In Mexico, GT is rare and there is not a general recommendation regarding its diagnosis and treatment. The aim of this document was to establish a consensus to suggest a general guideline for the diagnosis and treatment of GT in Mexico.

Application of high-throughput sequencing in the diagnosis of inherited bleeding and thrombotic disorders / 中华检验医学杂志

Inherited bleeding and thrombotic disorders (BTD) are a group of heterogeneous diseases related to the coagulation system, platelet function and fibrinolytic system. In addition to the common BTD, it is difficult to diagnose such patients by routine laboratory tests, and special laboratory tests are often required to confirm the diagnosis. Therefore, the diagnosis and treatment of patients may be delayed, or even life-threatening. With the increasing use of high-throughput sequencing (HTS) technology in clinical practice, the diagnosis and differential diagnosis of BTD have made great progress.

Surgical management of the patient with factor V deficiency: a case report

Factor V(FV) is a rare bleeding disorder that its incidence is one in a million. Patients with FV deficiency have typically mucosal bleeding and prolonged bleeding after an invasive procedure. There are no certain treatment modalities and there is no product of FV concentrates in the markets. The bleeding diathesis and protect the ovarian viability are a challenge as an opposite situation for treatment options and ovarian preservation after detorsion is controversial. We aimed to provide ovarian blood-stream,control bleeding and protect thromboembolism from the patient with all of our treatment in the light of literature and a few case reports.

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.

Clinical Spectrum of Intracranial Bleeds in Patients with Bleeding Disorders- Experience from a Tertiary Center in Karnataka.

The most frequent emergency event in haemophilia and other bleeding disorders is intracranial haemorrhage (ICH), most of which is caused by trivial trauma, affecting around 3–10%. We studied the spectrum of presentation of ICH at our institute.METHODSThis was retrospective analysis of all patients with diagnosed or suspected bleeding diathesis and ICH presenting at the Clinical Haematology Department, BMCRI. They underwent complete coagulation workup, inhibitor screening, plain CT- brain and other relevant investigations.RESULTS3.26% of patients with bleeding disorders presented with ICH of over 2 years. M:F ratio was 13:1. 78.6% had Haemophilia A, 7.1% each had Haemophilia B, Factor XIII deficiency and Hypofibrinogenemia. 13 (92.9%) had severe Haemophilia A or B and 1 (7.1%) had mild Haemophilia B. Their ages ranged from 2 - 69 years. 50% were adults with the oldest being 69 years. Out of 7 children with Intracranial bleeds, 5 (71.4%) were <5 years. 2 (18.2%) with Haemophilia A had inhibitors. None were hypertensive. There was recent history of trauma in 9 (64.3%). All (100%) had severe headache, 21.4% had vomiting and 28.6% had seizures at presentation. Subdural haemorrhage was seen in 9 (64.3%), subarachnoid haemorrhage in 1 (7.1%), epidural bleed in 1 (7.1%), and intraparenchymal bleed in 3 (21.4%). All patients received appropriate factor replacement and supportive treatment. 9 (64.3%) received factor replacement only, 5 (35.7%) with SDH required additional burr hole evacuation. 2 (14.3%) patients died and 12 (85.7%) responded to treatment. None had sequelae in this series.CONCLUSIONS3.26% of our cohort presented with intracranial bleed over a period of two years. Majority with ICH were Haemophilia A and had severe deficiency with history of trauma. Headache is the commonest presentation and astute and keen clinical suspicion is paramount for instituting early treatment. SDH was most common in our series and majority responded to conservative management with factors.

Clinical and laboratory diagnosis and management of rare bleeding diseases / 中华检验医学杂志

Rare bleeding disorders (RBD) are autosomal recessive inherited diseases caused by one or more coagulation factor defects, including the deficiency of fibrinogen (FG), prothrombin, factor (F)V, Ⅶ, Ⅹ，Ⅺ, Ⅷ and so on. Due to the low prevalence of RBD, and lack of large-scale randomized controlled studies in the world, where are great challenges to clinicians in diagnosis and treatment of this series of diseases. Facing in the heterogeneity of clinical phenotype and laboratory characteristics, it is more necessary to strengthen the communication and cooperation between the clinical and laboratory, realizing comprehensive management.

Investigation of Von Willebrand disease in children with epistaxis and clinical practical approach

Background: The absence of a standardized approach to the disease and bleeding history can lead to unnecessary patient consultations and sometimes late diagnosis. The aim of this study was to investigate von Willebrand disease (VWD) in patients presenting with epistaxis with clinical practical approach.Methods: 63 Patients who were admitted to the pediatric hematology and oncology clinic between June 2017 and June 2018 with a complaint of epistaxis were evaluated. Patients diagnosed with VWD were classified as group 1, patients without VWD considered as group 2. The two groups were compared in terms of number of additional symptoms, and family history.Results: There was no difference in terms of age and gender when compared with 42 patients not considered as VWD (group 2), number of additional symptoms, and family history were significantly higher in the group considered as VWD.Conclusions: Excess number of additional bleeding symptoms, and bleeding history in family are of importance for the suspicion of diagnosis of VWD for physicians with limited experience in terms of bleeding disorders in primary and secondary health care institutions.

Platelet function tests: A 5-year audit of platelet function tests done for bleeding disorders in a tertiary care center of a developing country

Introduction: The platelet function disorders remain largely undiagnosed or incompletely diagnosed in developing nations due to lack of availability of tests like lumiaggregometry, granule release assay or molecular testing. We performed a retrospective analysis of all the platelet function test (PFT) carried out in past 5 years by Light transmission aggregometery (LTA) using a panel of agonist. The indications and the test results were analyzed by two hematopathologist with the aim to look into the present diagnostic facilities or lack of it for correct diagnosis. This is essential for better management and genetic counselling. Materials and Methods: The PFT was performed both on patients and healthy unrelated age specific controls by light transmission aggregometry on Chronolog platelet aggregometer using platelet rich plasma. The panel of agonists included ADP (10?m/l and 2.0 ?m/l), epinephrine (10.0 ?m/l), collagen (2?g/ml), arachidonic acid (0.75 mM) and ristocetin (1.25 mg/ml & 0.25 mg/l). Results: The 5 years records of 110 cases were audited, 101 of these were tested for clinical bleeding , 35 adults and 66 children. The adults included 29 women and 6 men, 17 to 82 years of age. The children were 16 years to 3 months of age, 30 girls and 36 boys. Platelet function test abnormality was found in 31.6% (32/101) cases ,a majority remained undiagnosed of these about 21% had clinically significant bleeding.The cases diagnosed included Glanzmann Thromboasthenia-11 , von Willebrand Disease-6, Bernard Soulier'syndrome-1, storage pool disorder-6, mild defect of Epinephrine-3, isolated defect with collagen in1. Conclusion: An epidemiologically large proportion of platelet function disorders amongst people living in developing nations remain undiagnosed. This lacunae needs to be highlighted and addressed on larger scale. The options available are to increase the available armamentarium of tests or international collaboration with a specialized laboratory to aid in complete diagnosis.

Clinical Course and Results of Surgery for Chronic Subdural Hematomas in Patients on Drugs Affecting Hemostasis

OBJECTIVE: An apparent increase of use of drugs affecting hemostasis in our neurosurgical department since the 1990s has encouraged us to investigate whether these drugs influence the clinical course and results of surgery for chronic subdural hematoma (CSDH). METHODS: This retrospective analysis included 178 patients admitted for CSDH from 2007 to 2011 who were divided into two groups: on drugs affecting hemostasis (40; 22%) and no bleeding disorders (138; 78%). Medications in the first group included oral anticoagulants (33; 82.5%), antiplatelets (5; 12.5%) and low molecular weight heparins (2; 5%). RESULTS: The patients on drugs affecting hemostasis were older (74.3±7.4 vs. 68.4±14.8; p-value 0.01) and the group without bleeding disorders had more head trauma history (61% vs. 38%, p-value 0.01). The groups did not differ in bilateral hematoma rates (25% vs. 20%, p-value=NS). At diagnosis, mean hematoma thickness was lower in patients on drugs affecting hemostasis (18.7±7.4 mm vs. 21.9±7.9 mm, p-value<0.01). Average stay of hospital was 1 day longer in patients on drugs affecting hemostasis (11.7±4.1 vs.10.9±5.3, p-value=NS) and was related to the necessity of bleeding disorder reversal. Mean neurological status at presentation was similar between the groups (p-value=NS) as was the likelihood of hematoma recurrence (p-value=NS). Glasgow Outcome Scale results were comparable. CONCLUSION: Patients on drugs affecting hemostasis are less often aware of a head trauma history, possibly suggesting a higher CSDH risk after minor trauma in this group. In these patients, smaller hematomas are symptomatic, probably due to faster hematoma formation. Drugs affecting hemostasis do not affect treatment results.

Primary Intracerebral Haematoma Evacuation: A Case Report.

Spontaneous intracerebral hemorrhage is one of the most devastating types of stroke, leading to disability and high mortality rate. Besides blood pressure reduction and intensive medical and surgical treatment, immediate coagulopathy reversal is vital. On the other hand, the haemostatic disturbances may contribute to improve the recovery. We describe the evacuation of intracerebral hemorrhage with the insertion of external ventricular drainage in a patient suffering from deep hypertensive intracerebral haemorrhage and haematocephalus.

Uso de crioprecipitado em cão com hemorragia aguda: relato de caso / The use of cryoprecipitate in a dog with acute hemorrhage: case report

Relata-se o caso do uso de crioprecipitado em um paciente canino, Yorkshire Terrier, que apresentou sangramento agudo intenso durante procedimento de artroplastia. No momento do distúrbio hemorrágico o paciente possuía valores de tromboplastina parcial ativada (TTPA) acima de 240 segundos, e de tempo de protrombina (TP) de 14,9 segundos. Optou-se pelo uso de hemocomponentes plasmáticos a fim de corrigir os distúrbios hemorrágicos, e uma vez que o paciente possuía peso reduzido (4,8kg), foi decidido pela transfusão de uma unidade de crioprecipitado (20 mL), de forma rápida (20 minutos), ainda no trans-operatório. Os valores de TTPA e TP pós-transfusionais foram de 45,5 e 10,2 segundos, respectivamente, com rápido controle do sangramento. No retorno após 13 dias os valores de TTPA e TP estavam dentro dos valores de normalidade para a espécie. Conclui-se que o crioprecipitado ofereceu os fatores de coagulação necessários para correção do distúrbio hemorrágico, controlando o sangramento e melhorando os valores de TTPA e TP. Por conter alta concentração de fatores de coagulação e volume reduzido, o crioprecipitado pode ser uma boa escolha para pacientes com coagulopatias secundárias, especialmente em animais de pequeno porte. A eficácia na terapia transfusional direcionada com o uso racional do melhor hemocomponente para o caso ilustra a necessidade de conhecimento dos diferentes hemocomponentes e estudo individual dos casos.

It is reported the case of the use of cryoprecipitate in a canine patient, Yorkshire Terrier, who presented acute heavy bleeding disorder during arthroplasty procedure. At the time of bleeding disorder the patient had values of activated partial thromboplastin time (aPTT) above 240 seconds, and prothrombin time (PT) of 14.9 seconds. It was opted for the use of plasma components to correct the bleeding disorders, and since the patient had low weight (4.8kg), it was decided by the transfusion of one unit of cryoprecipitate (20 mL), quickly (20 minutes), even during surgery. The aPTT and PT post-transfusion values were 45.5 and 10.2 seconds respectively, with rapid control of bleeding. On return after 13 days the values of APTT and PT were within the normal range for the species. Because it contains high concentration of clotting factors and reduced volume, cryoprecipitate may be a good choice for patients with secondary bleeding disorders, especially in small animals. The effectiveness in transfusion therapy directed to the rational use of blood components illustrates the need for knowledge of the different blood components and individual study of each case.

Epidemiology & social costs of haemophilia in India.

India lacks a national policy on the prevention and control of genetic disorders. Although the haemoglobinopathies have received some attention, there are scarce data on the epidemiology of other genetic disorders in India. Haemophilia, an inherited single gene disorder with an incidence of 1 per 10,000 births, manifests as spontaneous or trauma-induced haemorrhagic episodes in patients, progressing to chronic disability and premature mortality in untreated patients or patients with sub-optimal treatment. Although the genetic basis of this disorder has been well studied in India, data on the number of patients, trends of the disorder in India, social costs of the condition and opportunities and competencies for offering genetic counselling through a public health programme have not been reported. This review article summarizes the available Indian data, which show that the country harbours the second highest number of global patients with haemophilia A. The reported number of patients with haemophilia A is 11,586 while the estimated prevalence could be around 50,000 patients. This review also identifies the need to immediately initiate a national programme for haemophilia, with components of prevention, care for patients, surveillance and education and support for families.

Diagnosis and treatment of rare hereditary bleeding disorders / 中国小儿急救医学

In this feature article,we focused on rare hereditary bleeding disorders with the exception of hemophilia,hereditary factor Ⅺ deficiency and von Willebrand's disease.In order to raise the awareness and promote the diagnosis rate of the rare hereditary bleeding disorders,we discussed the classification according the bleeding mechanism,clinical features and therapeutic advance.

Deficiencia adquirida del factor VIII. Un ejemplo cuando la cirugía puede ser perjudicial y no para salvar vidas / Deficiência adquirida do fator VIII. Um exemplo de quando a cirurgia pode ser prejudicial e nâo vinculada a salvar vidas / Acquired factor VIII deficiency. One instance when surgery may be harmful and not life-saving

La hemofilia adquirida A es una condición extremadamente rara que ocurre en una persona en un millón por año. Puede causar riesgo para la vida por causar episodios de sangrado durante la edad adulta, debido a la producción de auto-anticuerpos que inactivan el factor VIII. Su tratamiento suele incluir la inmunosupresión y la cirugía se debe evitar en lo posible. Presentamos dos casos que nos tocó tratar, y realizamos una recopilación somera de la bibliografia, a fin de enfatizar la necesidad de no realizar tratamiento quirúrgico en estos casos.

A hemofilia adquirida A é uma condição extremamente rara que pode ocorrer com a probabilidade de um caso em um milhão de pessoas por ano. Pode causar risco para a vida por causar episódios de sangramento durante a idade adulta, devido à produção de autoanticorpos que inativam o fator VIII. Seu tratamento geralmente inclui a imunosupressão, e a cirurgia deve, dentro do possível, ser evitada. Apresentamos dois casos por nós tratados, e realizamos um breve resumo da bibliografia, com a finalidade de enfatizar o propósito de não realizar tratamento cirúrgico nestes casos.

Acquired hemophilia A is an extremely rare disease with an incidence of 1 in 1,000,000 per year. It may be life threatening as it produces bleeding episodes in adult life, due to the production of antibodies which inactivate factor VIII. Treatment may include immunosuppression and surgery must be avoided as much as possible. We shall present two of our cases and then make a brief review of the literature, in order to underscore the need of not operating these cases.

Estudio clínico-epidemiológico de alteraciones hemorrágicas y necróticas causadas por el veneno de la serpiente de cascabel (crotalus durissus cumanensis) en pacientes venezolanos / Clinical and epidemiological study of hemorrhagic and necrotic alterations caused by the rattlesnake (crotalus durissus cumanensis) venom in venezuelan patients

Se describieron los efectos hemorrágicos, necróticos y edematosos de 135 pacientes provenientes de los estados Miranda, Aragua, Vargas y Distrito Capital, Venezuela, ocasionados por la mordedura de la serpiente cascabel común venezolana (Crotalus durissus cumanensis), durante los años 1998-2008. Los trastornos hemorrágicos, que tradicionalmente eran casi imperceptibles en los Crotalus venezolanos, hemos encontrado que hay evidencias francas de manifestaciones clínicas como: afibrinogenemia, alargamiento del tiempo de coagulación manual (TCM), tiempo parcial de tromboplastina (TTP) y tiempo de protrombina (TP), lo cual indica la presencia de estas fracciones hemorrágicas en el veneno de cascabeles nacionales. Se apreciaron diferencias entre ambos sexos, siendo predominante en el sexo masculino (82%). Sin embargo ha habido un aumento de incidencia significativa en el sexo femenino (17%). Por grupo etario, se observó predominancia entre 11 a 30 años de edad, en ambos sexos. El sitio de mordedura mayormente afectado fue el miembro superior (58,5%), con un porcentaje no menos significativo de miembros inferiores (40,7%). Estos hallazgos, permiten sugerir que el veneno de algunas serpientes cascabeles comunes en Venezuela, poseen un efecto sistémico sobre el músculo esquelético, y también efectos sobre capilares que generan edema, fenómenos hemorrágicos y necrosis, que habían pasado desapercibidos.

The bleeding, necrotic and edematous Snake bite effects from 135 patients of Miranda, Aragua, Vargas States and Capital District (Venezuela), caused by the Venezuelan common rattlesnake (Crotalus durissus cumanensis) from 1998 to 2008 were described. In bleeding disorders, which traditionally were almost imperceptible in Venezuelan Crotalus, we have found reliable evidence of clinical manifestations such as: afibrinogenemia, lengthening of the manual time of coagulation (MTC), and Partial Time of Thromboplastin (PTT) and Prothrombin time (PT), which indicates the presence of hemorrhagic fractions in the Venezuelan rattlesnake’s venoms. There were differences between the sexes, still predominant in male (82%). However, there has been an increase of significant impact on female (17%). By age, there was prevalence between 11 and 30 years old, both male and female. The mostly affected bite si te was upper limb (58,5%), with a no less significant percentage of lower limbs (40,7%). These findings, allowed us to suggest that some rattlesnake venoms have a systemic effect on skeletal muscle, and also effects on capillaries that generate swelling, hemorrhagic phenomena and necrosis.

Situación de salud oral de niños uruguayos portadores de coagulopatías hereditarias: Centro Hospitalario Pereira Rossell, Montevideo, Uruguay / Oral health in uruguayan children with inherited bleeding disorders: Pereira Rossell Hospital, Montevideo, Uruguay

Propósito: describir la situación de salud oral de los niños portadores de coagulopatías atendidos en el Servicio de Hemoterapia del Centro Hospitalario Pereira Rossell de Montevideo,Uruguay, entre febrero del 2008 y diciembre del 2009, y compararla con un grupo sin coagulopatías. Método: se realizó un estudio retrospectivo de casos y controles. El grupo deestudio estuvo conformado por 39 pacientes (edad: 8,62 ±4,20 años) y el grupo de control, por 78 (edad: 6,5 ± 2,88 años). El análisis de los hallazgos fue descriptivo. Resultados: enel grupo de niños con coagulopatías se encontró un índice ceo-d 2,85 ± 2,41 y un CPO-d 1,96 ±2,59, ambos ligeramente superiores al grupo control. Según la clasificación de lacoagulopatía se registró: hemofilia A en 17 pacientes, hemofilia B en 7, deficiencia de factor XII en un paciente y enfermedad de von Willebrand en 14. La adherencia al tratamientofue calificada como buena en 15 pacientes, mientras que fue mala en los 24 pacientes restantes. Conclusión: este es un primer reporte de salud oral en niños con coagulopatías en Uruguay. Es necesario hacer un seguimiento y aumentar la cobertura de este programa para mantener la salud oral de estos pacientes...

Aim: Describe the oral health status of children with inherited bleeding disorders who attended the Pereira Rossell Hospital in Montevideo Uruguay for dental care, between February 2008 and December 2009, and compare it with children without bleeding disorders. Methods:A retrospective case-control study was carried out. The study group consisted of 39 patients (age: 8.62 ± 4.20 years), while the control group had 78 patients (age 6.5 ± 2.88). Descriptive analysis was done to the data. Results: The study group had a dmf-s index 2.85± 2.41 and a DMF-s 1.96 ± 2.59, being slightly higher than in the control group. The bleeding disorder classification was: Hemophilia A, 17 patients; Hemophilia B, 7 patients; factor XII deficit, 1 patient; and Von Willebrand disease, 14 patients. Commitment to the treatmentwas determined as good in 15 patients and bad in 24 patients. Conclusion: This is the first oral health report on children with bleeding disorders from this program in Uruguay. It isnecessary to follow up the patients and increase the program coverage in order to maintain the oral health of this kind of patients...

Prevalence and spectrum of von Willebrand disease in Eastern Uttar Pradesh.

Context: Von Willebrand disease is the most common inherited bleeding disorder with a prevalence of ≈ 1% in the general population. Studies available from India are limited, showing a prevalence of ≈ 10% of vWD amongst inherited bleeding disorders. Aims: This study aims to know the prevalence and subtypes of vWD in patients presenting with various bleeding manifestations to university hospital. Settings and Design: We investigated 840 patients presenting with bleeding manifestations in the period from August 2004 to August 2008 for bleeding disorders. Materials and Methods: Tests performed for the diagnosis of vWD included platelet count, bleeding time (BT), prothrombin time (PT), activated partial thromboplastin time (APTT), Factor VIII:C assay, von Willebrand Factor Antigen assay and Ristocetin-induced platelet aggregation. Results: Amongst 840 patients, 230 (27.38%) had inherited bleeding disorder. Out of these, 40 (17.39%) patients were identified as vWD. Type 1 in 17 (42.5%), Type 2 in 11 (27.5%) and Type 3 vWD was present in 12 (30.0%) patients. Patients' age ranged from five months to 45 years, with 17 males and 23 females. Positive family history was seen in 12 patients (30%). Muco-cutaneous bleeding was the most common presentation. Menorrhagia was present in 100% women of reproductive age group, and hemarthrosis was seen in two male patients. Conclusions: We felt that Type I vWD with infrequent and mild bleeding episodes remain undiagnosed either because of unawareness of the disease in society or due to paucity of diagnostic facilities available in our country. Therefore, an awareness program along with enhancement of diagnostic facilities for vWD is required in our country to identify these patients for proper management thus avoiding hemorrhagic complications.

Prevalence of dental caries and treatment needs among hemophilic children of kota city, rajasthan.

Background: Hemophilic children must be thought of as special patients. Although there have been number of studies regarding with oral surgical, periodontal management of hemophilia there is paucity for the dental caries and its severity in hemophiliac children. The objective of this study is to assess prevalence of dental caries and treatment needs among hemophilic children attending Rajasthan hemophilia society, Kota City, Rajasthan. A descriptive cross-sectional study was conducted on a group of children suffering from haemophilia with age ranging from 0 to 15 years. Dentition Status and Treatment Needs Index (WHO 1997) was used to record dental caries. A total of 164 subjects of both the sexes were examined. Over all prevalence of dental caries was 87.19%. The present study showed dental caries prevalence and treatment needs was high among hemophilic patients indicating need for dental services at the earliest as a preventive measure for these patients.

Clinical audit of inherited bleeding disorders in a developing country.

Objective: We did a clinical audit to determine the status of coagulation disorders in a hemophilia care center in Pakistan. Setting: Fatimid foundation blood bank and hematological diseases center, Lahore. Study Design: This is a retrospective descriptive study. Materials and Methods: All patients registered at Lahore center were included. Data was collected using a questionnaire including age, gender, diagnosis, hepatitis and human immune deficiency virus (HIV) status, number of episodes of bleeding, most common site of bleeding, severity of disorder and number of transfusions required to treat the episode. Results: During the study period, a total of 923 registered patients were reviewed at Lahore center and of these, 408 patients (44.2%) were on regular follow-up. Inherited bleeding disorders identified in these patients included hemophilia A, hemophilia B, vWD, factor VII deficiency, factor V deficiency, factor X deficiency, dysfibrinogenemia, afibrinogenemia, factor XIII deficiency; and platelet function defects. Median age was 17 years with a range of three to 57 years. Median age at diagnosis was one year. There were 329 (80.6%) males and 79 (19.3%) females. The products used in these patients included factor VIII concentrate, fresh frozen plasma, cryoprecipitate, cryosupernatant and platelets. Testing for transmission of viral infections was also done in these patients and one patient (0.2%) was found hepatitis B positive, six patients (1.4%) were hepatitis C positive and two patients (0.49%) were HIV positive. Conclusion: Hemophilia A, hemophilia B and vWD are the commonly encountered inherited bleeding disorders in our patients followed by other recessively transmitted disorders with a median age of 17 years and male to female ratio of 4: 1. Most of the patients utilized services available at Fatimid foundation with good clinical results. In Pakistan, non-governmental organizations (NGOs) are trying their best for providing optimal treatment to patients with inherited bleeding disorders. There is a need for government participation to improve the availability of current hemophilia care services.