Transplante sequencial de fígado e medula óssea : a solução para protoporfiria eritropoiética? : relato de caso e revisão de literatura

Introdução: A protoporfiria eritropoiética (EPP) é uma doença hereditária rara da biossíntese do heme que resulta no acúmulo de protoporfirinas (PP), caracterizando-se por fotossensibilidade e, em uma minoria de casos, insuficiência hepática. A principal estratégia terapêutica para a doença hepática avançada é o transplante hepático (TH). Entranto, tal estratégia não corrige o defeito primário, culminando na persistência dos sintomas e na recidiva da doença no enxerto hepático. Nesse cenário, o transplante de células-tronco hematopoiéticas (TCTH) posterior ao TH é uma abordagem para EPP. Métodos: objetivamos descrever o primeiro transplante sequencial de fígado e medula óssea realizados no Brasil em uma paciente com EPP, além de revisar a literatura atual. Resultados: paciente do sexo feminino, 13 anos, com histórico de fotossensibilidade, que apresentou síndrome colestática e hepatopulmonar e foi diagnosticada com PPE. A biópsia hepática evidenciou cirrose avançada. Foi submetida a TH com sucesso, com melhoria dos sintomas respiratórios. No entanto, apresentou recorrência da doença no enxerto hepático. Realizou TCTH mieloablativo com doador não aparentado compatível, condicionamento com BuCy e profilaxia DECH (doença enxerto contra o hospedeiro) com ATG, tacrolimus e metotrexato. A pega neutrofílica ocorreu no D+18. Como complicações agudas, apresentou neutropenia febril, reativação de CMV (citomegalovírus) e cistite hemorrágica. Evoluiu com quimerismo misto, mas com normalização dos níveis de PP, estando atualmente 300 dias após TCTH clinicamente bem e com funcionamento normal dos enxertos. Conclusões: TH e TCTH consecutivos para EPP foram descritos em 11 pacientes na literatura, sendo uma população altamente variável, mas com resultados favoráveis. Este conceito de tratamento deve ser considerado em pacientes com doença hepática estabelecida. Novos modelos são necessários para identificar pacientes de alto risco de desenvolver doença hepática os quais poderiam, portanto, se beneficiar de estratégias terapêuticas mais precoces

Prophylaxis in hemophilia

Hemophilia is an inherited X-linked coagulopathy defined by a deficiency or abnormality in the clotting function of factor VIII (Hemophilia A) or factor IX (Hemophilia B). Prophylaxis – the regular administration of therapeutic products to maintain hemostasis and prevent bleeding – is the mainstream of treatment. Addressing the development and scientific evidence for administrating prophylaxis is the goal of this review. Prophylaxis is the therapeutic modality of choice for people with severe hemophilia, being considered, in principle, a lifelong treatment. It should have an early onset, ideally as a primary, or at least secondary. Even lifelong tertiary prophylaxis seems to offer benefit, although further studies are still lacking. Individualized strategies should lead to an optimization of the dilemma between better joint outcomes versus involved costs

Protocolos de regulação ambulatorial : hematologia adulto

Telemedicin

Convalescent plasma for COVID-19 in hospitalised patients : an open-label, randomised clinical trial

Background: The effects of convalescent plasma (CP) therapy in hospitalised patients with coronavirus disease 2019 (COVID-19) remain uncertain. This study investigates the effect of CP on clinical improvement in these patients. Methods: This is an investigator-initiated, randomised, parallel arm, open-label, superiority clinical trial. Patients were randomly (1:1) assigned to two infusions of CP plus standard of care (SOC) or SOC alone. The primary outcome was the proportion of patients with clinical improvement 28 days after enrolment. Results: A total of 160 (80 in each arm) patients (66.3% critically ill, 33.7% severely ill) completed the trial. The median (interquartile range (IQR)) age was 60.5 (48–68) years; 58.1% were male and the median (IQR) time from symptom onset to randomisation was 10 (8–12) days. Neutralising antibody titres >1:80 were present in 133 (83.1%) patients at baseline. The proportion of patients with clinical improvement on day 28 was 61.3% in the CP+SOC group and 65.0% in the SOC group (difference −3.7%, 95% CI −18.8–11.3%). The results were similar in the severe and critically ill subgroups. There was no significant difference between CP+SOC and SOC groups in pre-specified secondary outcomes, including 28-day mortality, days alive and free of respiratory support and duration of invasive ventilatory support. Inflammatory and other laboratory marker values on days 3, 7 and 14 were similar between groups. Conclusions: CP+SOC did not result in a higher proportion of clinical improvement on day 28 in hospitalised patients with COVID-19 compared to SOC alone

Hemophilia throughout the life cycle

Hemophilia is an inherited X-linked coagulopathy defined by a deficiency or abnormality in the clotting function of factor VIII (hemophilia A) or factor IX (hemophilia B). The continuous improvement of the treatment has made it possible to monitor the patient through their life cycle with the inherent transition of care, initially by caregivers in childhood and later by the patient himself. Alterations associated with age added to chronic diseases are a constant challenge in the comprehensive treatment of the patient. The inhibitors are IgG alloantibodies directed to exogenous clotting factors, factor VIII or factor IX. The likelihood of developing inhibitors varies from one person with hemophilia to another and depends on the interaction between multiple genetic and environmental factors. This review offers a better understanding of the physiological alterations that allow a comprehensive assessment of the patient with hemophilia