Systemic lupus erythematosus with acquired hemophilia A: A case report and literature review / 中南大学学报(医学版)

Systemic lupus erythematosus (SLE) complicated with acquired hemophilia A (AHA) is a rare condition with frequently delayed diagnosis and a high mortality rate, so it is necessary to strengthen the understanding of this disease. In this study, the characteristics and treatment in 1 case of SLE complicated by AHA is reported and analyzed, and a literature review is conducted. The patient was a 29-year-old young female with a 10-year history of SLE, the main clinical manifestation was severe abdominal bleeding. Laboratory tests revealed that the activated partial thromboplastin time (APTT) was notably prolonged (118.20 s), and the coagulation factor VIII activity (FVIII꞉C) was extremely decreased (0.20%) with high-titer of factor VIII (FVIII) inhibitor (31.2 BU/mL). After treating with high-dose glucocorticoid, immunoglobulin, cyclophosphamide, rituximab, blood transfusion, and intravenous infusion of human coagulation FVIII, the coagulation function and coagulation FVIII꞉C were improved, and FVIII inhibitor was negative without serious adverse reactions. During the next 5-year follow-up, the patient's condition was stable and no bleeding occurred. In the case of coagulation dysfunction in SLE, especially with isolated APTT prolongation, AHA should be screened. When the therapeutic effects of glucocorticoid combined with immunosuppressants are not desirable, rituximab could be introduced.

Hemophilia: a biography on therapeutical approaches

The history of hemophilia is ancient, with descriptions dated to the 2nd century AD. The first modern narratives appeared in 1800s, when total blood transfusion was the only available treatment and life expectancy was remarkably low. Advances occurred with the use of plasma and cryoprecipitate, but only the discovered of factor concentrates revolutionized the treatment. The implantation of prophylaxis allowed hemophilic patients to prevent bleeding and the development of chronic arthropathy, although with a significant burdensome with the regular infusions. In the past 20 years, this field has witnessed major improvements, including the development of gene therapy and other pharmacological approaches.

Therapeutic options for hemarthrosis in severe hemophilic patients / Opções terapêuticas para as hemartroses em pacientes hemofílicos graves

Introduction: Hemophilia A and B are rare congenital X-linked recessive diseases caused by lack or deficiency of the coagulation factors VIII (FVIII) or IX (FIX), respectively. The primary therapeutic approach is to replace the deficient coagulation factor, which can be achieved with factors derived from human plasma or recombinants. However, despite having a therapeutic approach, most severe cases are symptomatic and may have complications, mainly in the muscles and joints. One example of such disorder is hemarthrosis. This manifestation tends to affect mainly the knee, ankle, or elbow joints in about 80% of cases. Objective: to describe the primary forms of treatment for joint bleeding in patients with severe hemophilia. Methods: This is a qualitative research of the integrative review type meant to identify productions on topics associated with hemarthrosis and severe hemophilia. The articles were searched through the databases PubMed, Scientific Electronic Library Online (Scielo) and Virtual Health Library (BVS) with the following search descriptors: "hemarthrosis and hemophilia"; "joint diseases and Hemophilia" and corresponding terms in Portuguese. The inclusion criteria were as follows: a) scientific articles b) available in full-text c) studies available in Portuguese, English, or Spanish d) randomized clinical trials e) articles published between 2016 and 2021 f) articles containing hemarthrosis caused by severe hemophilia. As exclusion criteria, texts that had no relation to the theme, did not answer the guiding question, other types of articles that did not include randomized clinical trials and/or presented duplicates were discarded. Results: In total, 42 articles were found in the selected databases; eight were duplicated, and 25 were excluded for not being randomized clinical trials or because they did not contemplate the theme. After careful reading, nine articles that met the inclusion and exclusion criteria were identified. Of the eligible studies, one reported factor replacement, and eight reported physiotherapeutic treatment. Conclusion:Factor replacement for hemophilic patients is essential and, based on the information obtained, early replacement is ben-eficial for the patient to avoid joint complications. Prophylaxis is indicated in severe hemophilia and its main objective is to prevent recurrent hemarthrosis, which can cause permanent functional deformities. Some physiotherapeutic interventions are indicated to prevent joint damage in severe hemophilic patients. The findings show diversity in the physical therapy modalities employed. The complete prevention of joint damage is still a challenge. A combination of treatments and a multi-disciplinary team follow-up is necessary to ensure health and quality of life of patients. (AU)

Introdução: As hemofilias A e B são doenças congênitas raras, recessivas ligadas ao X, causadas por falta ou deficiência de fator de coagulação VIII (FVIII) ou IX (FIX), respectivamente. A terapêutica tem como conduta principal a reposição do fator de coagulação deficiente, podendo ser feita com fatores derivados de plasma humano ou recombinantes. Porém, apesar de possuir uma terapêutica, grande parte dos casos graves são sintomáticos e podem ter complicações, na sua maioria, nos músculos e nas articulações. Uma dessas desordens é a hemartrose. Essa manifestação tende a acometer principalmente articulações do joelho, tornozelo ou cotovelo em cerca de 80% dos casos. Objetivo: descrever as principais formas de tra-tamento para sangramento articular em pacientes com hemofilia grave. Método: Trata-se de uma pesquisa qualitativa do tipo revisão integrativa para identificação de produções sobre temas associados a hemartrose e hemofilia grave. A busca dos artigos foi através das bases de dados PubMed, Scientific Electronic Library Online (SciELO) e Biblioteca Virtual em Saúde (BVS) com os seguintes descritores de busca: "hemarthrosis and hemophilia"; "joint diseases and hemophilia" e termos correspondentes no português. Os critérios de inclusão foram os seguintes: a) artigos b) estar disponível em texto completo c) estudos disponíveis nos idiomas português, inglês ou espanhol d) ensaios clínicos randomizados e) artigos publicados entre 2016 e 2021 f) artigos que contemplem hemartrose por hemofilia grave. Resultados: No total, foram encontrados 42 artigos nas bases de dados selecionadas; oito estavam duplicados e 25 foram excluídos por não serem ensaios clínicos randomizados ou por não contemplarem a temática. Após leitura cuidadosa, foram identificados 9 artigos que atenderam aos critérios de inclusão e exclusão. Dos trabalhos elegíveis, um relatou sobre reposição de fator e oito artigos relataram sobre tratamento fisioterapêutico. Conclusão: A reposição de fatores para pacientes hemofílicos é essencial e, com base nas informações obtidas, a reposição precoce é benéfica para o paciente, evitando complicações articulares. A profilaxia está indicada na hemofilia grave e seu principal objetivo é prevenir a hemartrose recorrente, que pode causar deformidades funcionais permanentes. Algumas intervenções fisioterapêuticas são indicadas para prevenir danos articulares em pacientes hemofílicos graves. Os achados mostram diversidade nas modalidades de fisioterapia empregadas. A prevenção total dos danos articulares ainda é um desafio. É necessária uma combinação de tratamentos e acompanhamento por equipe multi-disciplinar de forma a garantir a saúde e qualidade de vida dos pacientes. (AU)

Impacto da hemofilia na qualidade de vida em relação à saúde de pacientes acompanhados pelo hemocentro de Alagoas / Impact of hemophilia on health-related quality of life of patients accompanied by the blood center of Alagoas

A qualidade de vida é um aspecto importante a ser considerado no plano terapêutico de qualquer paciente, principalmente aqueles que sofrem de doenças crônicas, como a hemofilia. Diante disso, esse estudo teve como objetivo avaliar a qualidade de vida em pacientes portadores de hemofilia atendidos pelo Hemocentro de Alagoas e descrever o perfil demográfico e socioeconômico. Foram 50 pacientes envolvidos na pesquisa, maiores de dezoito anos e portadores de hemofilia acolhidos pela associação e pelo hemocentro de Alagoas. A coleta de dados foi realizada por entrevistas utilizando-se de dois questionários: um sobre características demográficas e socioeconômicas e outro sobre avaliação da qualidade de vida relacionada à saúde (Haem-A-QoL). Desse total, 100% eram do sexo masculino, em que a maioria tinha idade entre 20 e 40 anos (80%), solteiro (62%), residentes no interior de Alagoas (58%), aposentado (56%), beneficiários da aposentadoria por complicação da hemofilia (60%), com renda pessoal no último mês de até um salário mínimo (78%) e sem plano de saúde privado (86%). A média do escore total do Haem-A-QoL foi 40,08 (variação de 0­96,46) com pior desempenho nos domínios "esporte e lazer" (média igual a 55,52) e "saúde física" (média igual a 50,16) e melhor nos campos de "relacionamentos e sexualidade" (média igual a 17,48). De modo geral, os hemofílicos do centro estudado apresentaram boa QVRS. A versão brasileira do Haem-A-QoL, demostrou ser um instrumento confiável, com boa consistência interna, revelando alguns problemas enfrentados pelos hemofílicos e que impactam na QVRS (AU)

Quality of life is a critical aspect in the therapeutic plan of any patient, especially those who suffer from chronic diseases, such as hemophilia. Thus, this study aimed to assess the quality of life in patients with hemophilia treated by the Blood Center of Alagoas and describe the demographic and socioeconomic profile. 50 individuals were enrolled in the study, being over 18 years old and with hemophilia treated by the Association and the Blood Center of Alagoas. Data collection was carried out through interviews using two questionnaires: one on demographic and socioeconomic characteristics, and the other on health-related quality of life (Haem-A-QoL). Of this total, 100% were male, most aged between 20 and 40 years (80%), single (62%), living in the interior of Alagoas (58%), retired (56%), beneficiaries of retirement due to hemophilia complications (60%), with personal income in the last month of up to one minimum wage (78%) and without a private health plan (86%). The mean of the total Haem-A-QoL score was 40.08 (ranging from 0-96.46), with the worst performance in the domains "sports and leisure" (mean of 55.52) and "physical health" (mean of 50.16), and the best performance in the domain "partnership and sexuality" (mean of 17.48). In general, the hemophiliacs in the center studied reported good health-related quality of life. The Brazilian version of Haem-A-QoL proved to be a reliable instrument, with good internal consistency, revealing some problems faced by hemophiliacs that impact on HRQoL

Infusão endovenosa domiciliar: tecnologias educativas para o cuidado à pessoa com hemofilia / Infusión intravenosa domiciliaria: tecnologías educativas para el cuidado de personas con hemofilia / Home intravenous infusion: educational technologies for the care of people with hemophilia

Resumo Objetivo Elaborar e validar tecnologias educativas para o cuidado domiciliar de pessoas com hemofilia em infusão endovenosa do fator de coagulação. Método Estudo metodológico, desenvolvido em três etapas: elaboração de tecnologias educativas, avaliação de conteúdo e aparência por juízes e apreciação por pessoas com hemofilia. As tecnologias educativas − cartilha e infográfico − foram elaboradas mediante revisão de literatura. Na etapa de avaliação com juízes, foi utilizada a técnica Delphi em duas rodadas, por meio do Índice de Validade de Conteúdo, concordância superior a 0,80 em relação a clareza de linguagem, pertinência prática e relevância teórica. Na avaliação com o público-alvo, foi considerado o nível de concordância de respostas positivas maior ou igual a 80% nos itens de organização, o estilo de escrita, a aparência e a motivação para a leitura. Resultados A cartilha apresentou índice de validade de conteúdo global de 0,88 na primeira rodada e 0,98 na segunda; e o infográfico, 0,88 na primeira rodada e 0,97 na segunda. Na apreciação das tecnologias educativas pelo público-alvo, o nível de concordância das respostas positivas foi superior a 80%. Conclusão Este estudo elaborou tecnologias educativas, cartilha e infográfico, que poderão contribuir com a adesão ao tratamento e promoção do cuidado, por meio de padronização das orientações às pessoas com hemofilia em infusão endovenosa domiciliar.

Resumen Objetivo Elaborar y validar tecnologías educativas para el cuidado domiciliario de personas con hemofilia sobre la infusión intravenosa domiciliaria del factor de coagulación. Métodos Estudio metodológico desarrollado en tres etapas: elaboración de tecnologías educativas, evaluación de contenido y apariencia por jueces y valoración por parte de personas con hemofilia. Las tecnologías educativas (cartilla e infográfico) fueron elaboradas mediate revisión de literatura. En la etapa de evaluación con jueces, se utilizó el método Delphi en dos rondas, por medio del Índice de Validez de Contenido, concordancia superior a 0,80 con relación a la claridad del lenguaje, pertinencia práctica y relevancia teórica. En la evaluación con el público destinatario, se consideró el nivel de concordancia de respuestas positivas mayor o igual a 80 % en los ítems organización, estilo de escritura, apariencia y motivación para lectura. Resultados La cartilla presentó un Índice de Validez de Contenido global de 0,88 en la primera ronda y 0,98 en la segunda. El infográfico presentó 0,88 en la primaria ronda y 0,97 en la segunda. En la valoración de las tecnologías educativas por el público destinatario, el nivel de concordancia de las respuestas positivas fue superior al 80 %. Conclusión En este estudio se elaboraron tecnologías educativas, cartilla e infográfico, que podrán contribuir con la adherencia al tratamiento y promoción del cuidado, mediante la estandarización de las instrucciones a personas con hemofilia sobre infusión intravenosa domiciliaria.

Abstract Objective To develop and validate educational technologies for home care of people with hemophilia on intravenous infusion of clotting factor. Method This is a methodological study, developed in three stages: development of educational technologies, content and appearance assessment by judges, and appraisal by people with hemophilia. The educational technologies - a booklet and an infographic - were developed through a literature review. In the assessment stage with judges, the Delphi technique was used in two rounds, through Content Validity Index, agreement greater than 0.80 in regarding clarity of language, practical relevance, and theoretical relevance. In the assessment with the target audience, the level of agreement of positive responses greater than or equal to 80% in the items of organization, writing style, appearance and motivation for reading was considered. Results The booklet presented a global content validity index of 0.88 in the first round and 0.98 in the second; and the infographic, 0.88 in the first round and 0.97 in the second. In the assessment of educational technologies by the target audience, the level of agreement of positive responses was higher than 80%. Conclusion This study developed educational technologies, a booklet and an infographic, which could contribute to adherence to treatment and promotion of care, by standardizing the guidelines for people with hemophilia in intravenous infusion at home.

Treatment of chronic refractory wound with autologous platelet-rich plasma in a hemophilia A patient after knee joint surgery / 中华烧伤杂志

On December 22, 2017, a 35-year-old male hemophilia A patient with a secondary chronic refractory wound after left knee joint surgery was transferred from the Department of Hematology of Maoming People's Hospital to the Department of Burns and Plastic Surgery in the same hospital. The physical examination revealed that the patient's left knee joint was swollen, with a full-thickness skin defect wound of 4 cm×4 cm on the lateral side of the joint and a large number of dark red blood clots at the bottom of the wound. The wound bleeding was controlled by intravenous infusion of plasma, cryoprecipitate, and human coagulation factor Ⅷ. After con- ventional debridement and dressing changes until the wound infection was controlled and necrotic tissue was removed, a subcutaneous cavity wound of 2 cm×2 cm in area and 3 cm in depth remained in the left knee joint and was difficult to heal. Nineteen days after transfer, the patient received autologous platelet-rich plasma (PRP) treatment, and 32 days after PRP treatment, the wound in left knee joint was healed with epithelialization. This case suggests that autologous PRP therapy would be a good option for hemophilia complicated chronic refractory wounds when they could not be repaired by surgery.

The existing scenario of haemophilia care in Canada and China - A review

ABSTRACT Hemophilia is an X-linked recessive genetic disorder which affects approximately 400,000 people globally. Differing healthcare reimbursement systems, budgetary constraints and geographical and cultural factors make it difficult for any country to fully deliver ideal care. Although developed countries have sufficient treatment products available, they are burdened by the higher expectation of outcomes, coupled with insufficient supportive care to monitor adherence and outcomes and to implement regular follow-up. In contrast, developing regions may not have ready access to factor replacement, but have developed excellent physiotherapy and rehabilitation programs. Although there are multiple studies that have attempted to assess country-specific variations in hemophilia care, very few compare hemophilia care between economically unequal countries and the challenges in achieving optimal hemophilia care. This literature review tries to bridge this gap and throws light on the country-specific differences in epidemiology, standard of hemophilia care and challenges faced in Canada and China. Data sources resulted in 20 studies (11 from Canada and 9 from China), which were reviewed. In a developed country, the main advantages are: the early treatment of bleeding episodes and the presence of a specialized interdisciplinary and comprehensive treatment concept. This is not the case in most developing countries, where the government does not have the resources to buy the necessary quantities of coagulation factors in the face of more urgent health priorities and hardly a few patients can afford to pay for their own treatment, even the on-demand home therapy.

Efectividad de inducción de tolerancia inmune en niños con hemofilia A y aloanticuerpos neutralizantes / Immunotolerance induction effectivity in hemophilia A children and neutralizing alloantibodies

Resumen: Introducción: El desarrollo de aloanticuerpos neutralizantes anti-factor VIII en hemofilia A es la complicación más seria relacionada al tratamiento. La inducción de tolerancia inmune (ITI) o inmunotolerancia es el único tratamiento que erradica inhibidores, permitiendo utilizar nuevamente factor VIII para el tratamiento o profilaxis de eventos hemorrágicos. Objetivo: reportar la experiencia en niños sometidos a inmunotolerancia en la red pública del país. Pacientes y Método: Análisis retrospectivo y descriptivo de 13 niños con Hemofilia A severa e inhibidores persistentes de alto título, que recibieron ITI y seguimiento completo. Se utilizó concentrado de FVIII plasmático en dosis de 70-180 UI/Kg/diarias, definiendo éxito como la negativización del inhibidor y recu peración de la vida media del FVIII. Resultados expresados en media (rango). Resultados: En 13 pacientes se identificó el inhibidor, a una edad de 17,6 meses (2-48), tras 35,2 días (9-112) de exposición a FVIII. Once pacientes (84,6%) recuperaron la vida media del FVIII, tras 49,6 meses (26-70) de tratamiento. En los pacientes que respondieron, el título del inhibidor se negativizó en 7,3 meses (1-20). Conclusiones: En niños con hemofilia A e inhibidores persistentes de alto título, la ITI tiene un elevado éxito. Dado que el tiempo de respuesta es variable, la inmunotolerancia debe ser personalizada.

Abstract: Introduction: The development of anti-factor VIII neutralizing antibodies in hemophilia A is the most severe com plication related to treatment. Immune tolerance induction (ITI) is the only known treatment for eradicating inhibitors. A successful ITI allows using factor VIII (FVIII) again for the treatment or prophylaxis of hemorrhagic events. Objective: To report the experience of pediatric patients who underwent ITI in the country's public health care network. Patients and Method: Retrospective and descriptive analysis of 13 pediatric patients with severe Hemophilia A and high-titer inhibitors persis tence who underwent ITI and complete follow-up. Plasma-derived FVIII concentrate was used at 70 180 IU/kg/day doses. The success of the treatment is defined by achieving a negative titer and a half life recovery of the FVIII. The results were expressed in median (range). Results: In 13 patients, the inhibitor was identified at an average age of 17.6 months, after 35.2 days of exposure to the FVIII. 11 patients (84.6%) recovered the half-life of FVIII after 49.6 months of treatment. In the patients who responded to treatment, the inhibitor titer was negative at 6 months on average. Conclusions: ITI is the treatment of choice for patients with hemophilia A and inhibitors persistence. ITI must be perso nalized since the time response is variable in each patient.

Hemofilia adquirida / Acquired hemophilia

Resumen La hemofilia adquirida (HA) es un trastorno hemostático autoinmune ocasionado por autoanticuerpos dirigidos contra el factor VIII: C. En 52 % de los casos, la causa se desconoce o no se asocia con otra entidad patológica; en el resto, existen factores concomitantes: lupus, artritis reumatoide, cáncer, embarazo y medicamentos. En México no existe registro ni conciencia de la enfermedad entre el personal de salud. Los grupos de mayor incidencia son las mujeres en edad reproductiva y los individuos mayores de 70 años. Se caracteriza por hemorragia grave, sobre todo posterior a traumatismos y parto o cesárea, y equimosis grandes en tronco y extremidades. La sospecha es simple, basta que concurran hemorragia súbita, grave y un TTPa prolongado que no se corrige con plasma. El tratamiento consiste en lograr la hemostasia y erradicar el anticuerpo; lo primero se logra con el factor VII activado recombinante o concentrado del complejo de protrombínico activado. La ciclofosfamida, prednisona o rituximab sirven para erradicar el anticuerpo. La mayoría de los casos no son diagnosticados y la mortalidad es alta. Ya que los médicos desconocen el problema, no se sospecha, no se diagnostica y no se trata. Este documento revisa los datos más recientes de la HA y abunda en el diagnóstico y tratamiento.

Abstract Acquired hemophilia (AH) is an autoimmune hemostatic disorder mediated by autoantibodies directed against factor VIII: C. In 52% of cases, the cause is unknown or is not associated with other pathological entities; in the rest, there are concomitant factors: lupus, rheumatoid arthritis, cancer, pregnancy, and medications. In Mexico, there is not a registry of AH, and awareness of the disease among health personnel is low. The groups with the highest incidence are women of childbearing age and individuals older than 70 years. It is characterized by severe bleeding, especially after trauma and normal childbirth or cesarean delivery, and large ecchymoses in the trunk and extremities. The suspicion is simple, it just takes for sudden, severe hemorrhage and a prolonged activated partial thromboplastin time that is not corrected with plasma to concur in an individual. Treatment involves achieving hemostasis and eradicating the antibody. The former is achieved with recombinant activated factor VII or activated prothrombin complex concentrate. Cyclophosphamide, prednisone or rituximab are used to eradicate the antibody. Most cases of AH are not diagnosed, which translates into a high mortality rate. Given that awareness about the disease among physicians is low, it is not suspected, neither diagnosed, and nor is it treated. This document reviews the most recent data on AH and expands on its diagnosis and treatment.

Reflexões sobre a judicialização do direito à saúdee suas implicações no SUS / Reflections on the judicialization of the right to health and its implications in the SUS

Resumo Apresenta-se a questão da judicialização do direito à saúde no Brasil, por meio da análise de estatísticas governamentais e revisão bibliográfica. Demonstra-se, a partir de dados do Conselho Nacional de Justiça, a existência de um incremento substancial no número de ações judiciais tratando do direito à saúde. Ressalta-se que a doutrina nacional discute efusivamente meios de tornar a prestação jurisdicional mais efetiva, mas não se discute, via de regra, o aspecto econômico da judicialização na saúde. Utilizando-se o conceito de custo de oportunidade, extraído da ciência da Economia, passa-se a demonstrar que o magistrado, ao deferir o pleito formulado pelo autor da ação judicial, automaticamente força o Poder Executivo a reduzir o escopo de outras políticas para gerar recursos visando custear o cumprimento da decisão judicial. Tal cenário, em determinados contextos, acaba por privilegiar o direito individual à custa dos da coletividade usuária do SUS, em ofensa ao princípio da isonomia e da eficiência. Por fim, apresenta-se o caso da judicialização promovida pelos pacientes hemofílicos no Distrito Federal como uma forma de demonstrar, no plano fático, as consequências da judicialização nas políticas do SUS.

Abstract This paper presents the issue of judicialization of the right to health in Brazil. Data from the National Council of Justice evidence a substantial increase in the number of lawsuits concerning the right to health. We emphasize that the national doctrine exhaustively discusses ways to make the authority more effective, but it does not, as a general rule, discuss the economic aspect of health judicialization. Using the concept of opportunity cost extracted from economics science, it is shown that the judge, by deferring the lawsuit formulated by the plaintiff, automatically forces the Executive Branch to reduce the scope of other policies to generate resources to meet the court order. In specific contexts, this setting ends up favoring individual rights at the expense of the collective rights of SUS users, in violation of the principle of isonomy and efficiency. Finally, the case of the judicialization promoted by the hemophiliac patients in the Federal District is shown as a way of evidencing, at the factual level, the consequences of judicialization in the SUS policies.

Sinoviortesis con radioisótopos en hemofilia: Experiencia de un centro en Chile / Radionuclide synoviorthesis in hemophilia: experience in 107 patients

Background: In patients with hemophilia, radionuclide synoviorthesis, or the intra-articular injection of a radionuclide to decrease the synovial hypertrophy tissue, aims to decrease or avoid hemarthrosis. Aim: To evaluate the effectiveness of radionuclide synoviorthesis in hemophilia. Material and Methods: Observational retrospective study of the evolution of 107 male patients aged 3 to 54 years who were subjected to radionuclide synoviorthesis between 2007 and 2015. Results: Of 164 treated joints, in 65% treatment was successful, (defined as zero to two hemarthroses and absence of synovitis during the follow up period), in 17% it was partially successful (defined as two or less hemarthroses, but persistence of the synovitis) and failed in 18% of the procedures. No important complications were recorded. Conclusions: Radionuclide synoviorthesis has an overall 82% success rate, is minimally invasive, can be used at any age and is inexpensive We recommend its implementation in Chilean hemophilia treatment centers.

El trasplante de hígado es un procedimiento plausible, efectivo y seguro en pacientes con hemofilia: caso clínico / Liver transplantation in hemophilia A: report of one case

Due to blood derivative requirements, many patients with hemophilia were exposed to Hepatitis C virus infection (HCV) before the availability of HCV testing. We report a 46-year-old male with Hemophilia A with a hepatitis virus C infection since 2004 causing a cirrhosis. Due to a hepatopulmonary syndrome, he received a liver allograph using a factor VIII replacement protocol, after eradicating the virus C. He had a good postoperative evolution, and no more factor VIII was required after transplantation until his last assessment.

Tratamiento profiláctico en la hemofilia en países de la región Latinoamericana. Un reporte del Grupo Latinoamericano para el Impulso del Tratamiento de la Hemofilia (GLAITH) / Prophylaxis in hemophilia: situation analysis and call-to-action in Latin America. A report from the GLAITH group

La profilaxis en el tratamiento de la hemofilia ha sido crucial en la mejoría del pronóstico y calidad de vida en las personas con hemofilia (PCH). A pesar de ello, no está globalmente implementado y no ha sido ejecutado satisfactoriamente en Latinoamérica, donde es difícil evaluar la situación, y el manejo de las PCH no se ajusta a los estándares ideales. El grupo GLAITH (Grupo Latino Americano para el Impulso del Tratamiento de la Hemofilia) discutió el problema a través de una encuesta entre sus integrantes. Los hallazgos fueron discutidos en Bogotá en mayo del 2013 en donde los participantes definieron los puntos esenciales a comunicar en un llamado a la acción. Las proporciones de casos de hemofilia A reportados fueron entre 75 y 90% y entre 10 y 25%, los de hemofilia B. La hemofilia grave representó entre el 26 y el 55% de los casos. Un alto porcentaje de PCH tiene artropatía hemofílica. La atención de PCH varía en cada país, sólo se cubre entre el 50 y 60% del tratamiento, que es a demanda en el 85 a 95% de los casos. Sólo 5 a 15% reciben profilaxis, la mayoría secundaria. Pocos países tienen programa nacional o registros homogéneos. En llamado a la acción y conclusión para la región se recomienda: establecimiento de un registro latinoamericano unificado; estudios prospectivos de costo efectividad y evaluación de criterios en profilaxis secundaria; estudios comparativos de calidad de vida, individualización del tratamiento e implementación de la profilaxis en forma global en Latinoamérica.

Prophylactic treatment in the management of hemophilia has been a crucial factor in improving the prognosis and quality of life for people with hemophilia (PCH). However, it is not globally implemented. In Latin America it is difficult to assess the status of PCH and the its management does not conform to ideal standards. The GLAITH group discussed the problem in Latin America. A survey of its members and its findings were discussed at a meeting in Bogota in May 2013. Proportions of hemophilia A and B were 75-90% and 10-25% respectively. Severe hemophilia represents 26-55% of cases. A high percentage of PCH have hemophilic arthropathy. The general care and specific treatments of PCH vary by country, only 50-60% of the treatment is covered and in 85-95% of the cases are performed on an ondemand basis. Just 5-15% receives prophylaxis, most of them secondary. Few countries have a national program or homogeneous records. Finally the GLAITH group proceeded to develop a conclusion and call to action for the region where the following points are recommended: the establishment of a unified Latin American registry; prospective cost-effectiveness studies and evaluation criteria related to secondary prophylaxis; comparative studies of quality of life with and without prophylaxis in the region; promotion of individualization of treatment and, the increase of primary and secondary prophylaxis globally in Latin America.

Criterios de respuesta para definir éxito en la terapia de pacientes hemofílicos llevados a cirugía. Revisión ampliada de la literatura (RAL) / Evaluation of therapeutic response in hemophilic patients requiring surgical procedure. Extended review of the literature (RAL)

La hemofilia, enfermedad congénita de baja prevalencia en la población general, se clasifica en tipos A y B según su deficiencia sea del factor VIII o IX de la coagulación. Desde hace más de 40 años existen preparados plasmáticos de cada uno de los factores y en la actualidad contamos con derivados recombinantes. Los pacientes que requieren intervenciones quirúrgicas son un reto para los diferentes grupos de manejo, porque el estándar de criterios para definir la respuesta a la terapia no está claro. Se realizó esta revisión ampliada de la literatura con el fin de evaluar cuáles son los criterios de respuesta en las diferentes publicaciones. En las principales bases de datos médicos, se recolectaron y tabularon 61 artículos después de aplicar los criterios de inclusión y exclusión, encontrando que múltiples estudios aplicaban diferentes parámetros para evaluar el sangrado como son los niveles de factor de la coagulación, tromboelastografía, tiempo de generación de trombina, reintervención quirúrgica, duración de la hospitalización y evaluación de dolor, con lo cual concluimos que hay heterogeneidad en los parámetros que aplican los autores en relación con los objetivos principal y secundarios de nuestra revisión...(AU)

Hemophilia is an inherited low prevalence disorder among the general population classified as type A or B according to the deficiency of either coagulation factor VIII or IX. Coagulation factors in plasma prepared have been available for more than forty years, counting with recombinant factor products nowadays. Patients requiring surgical interventions are a challenge for treating physicians for the criteria standards of therapeutic response are not yet clear. This extended literature review was conducted to evaluate the therapeutic response criteria described in different publications. Sixty-one articles were retrieved from the main medical data bases and tabulated after applying the inclusion and exclusion criteria. Findings showed that many studies considered various parameters to monitor bleeding, such as, levels of coagulation factor, thromboelastography, thrombin generation time, surgical reintervention, length of hospital stay and level of pain. Thus, we conclude there is heterogeneity in the parameters authors apply regarding the primary and secondary objectives of our review...

Hemophilia A: considerations for dental management of pediatric patients / Hemofilia tipo A: consideraciones en el manejo odontológico de pacientes infantiles

It comes to consulting the Faculty of Dentistry at the University of Nuevo León pediatric male patient of 9 years 10 months, who was admitted with a presumptive diagnosis of hemophilia due to a subsequent persistent bleeding to treatment with steel crowns made in an earlier appointment. Interconsultation is performed with the hematologist who by laboratory examinations notice decreased coagulation factor VIII confirming the diagnosis of hemophilia A. It plans and conducts comprehensive treatment dental team with the hematologist who said that patients in hospitals with the replacement of missing clotting factor is prepared by cryo precipitates or with concentrated factor VIII intravenously before and after his dental intervention. The aim of the article is to highlight that hemophilia can be a disease detected during dental surgery in some patients and for it to be successfully treated with multidisciplinary management protocol is required between hematologists and dentists.

Se presenta a consulta en la Facultad de Odontología de la Universidad Autónoma de Nuevo León paciente masculino pediátrico de 9 años 10 meses, el cual ingresa con un diagnóstico de presunción de hemofilia debido a un sangrado persistente posterior al tratamiento con coronas de acero realizadas en una cita anterior. Se efectúa interconsulta con el hematólogo quien mediante exámenes de laboratorio observa una disminución del factor VIII de coagulación lo que confirma el diagnóstico de hemofilia tipo A. Se planea y realiza el tratamiento integral odontológico en equipo con el hematólogo quien indica que se prepare al paciente a nivel hospitalario con la reposición del factor de coagulación faltante a través de crio precipitados o mediante concentrado del factor VIII por vía intravenosa previo y posterior a su intervención dental. El objetivo del artículo es destacar que la hemofilia puede ser una enfermedad detectada durante la consulta dental en algunos pacientes y que para que éstos sean tratados con éxito se requiere un protocolo del manejo multidisciplinario entre hematólogos y odontólogos.