Extended half-life recombinant factor VIII treatment of hemophilia A in Brazil: an expert consensus statement

Introduction Treatment of hemophilia A in Brazil is offered to all patients at no cost. However, several unmet medical needs exist. Method In this study, we applied the Delphi method to discuss with seven hemophilia A specialists the challenges that patients and the health system face regarding hemophilia A treatment and opportunities for improvement. Results A consensus was obtained regarding the number of weekly infusions and patient adherence to treatment. The bleeding profile, unfavourable pharmacokinetics (PKs), low adherence and high daily activity were patient profiles that would benefit from using the extended half-life (EHL) recombinant factor VIII (rFVIII). The advantages of treatment with the EHL rFVIII were the lower number of infusions per week, which could increase patient adherence and decrease the risk of bleeds, due to a more constant plasma level, a lower value. Additionally, the EHL rFVIII could improve quality of life, especially in patients with high daily activity, such as adolescents and young adults. The panelists mentioned that EHL rFVIII, if available, could be offered first to the priority group (adolescents between 12 and 19 years old), followed by adults (20 to 64 years old) and elderly people (over 65 years old). Conclusion In summary, the EHL rFVIII offers the optimal prophylaxis by decreasing the dose frequency, increasing the treatment adherence and improving the QoL, without compromising safety and efficacy.

Detection of alloimmunization in Glanzmann Thrombasthenia and Bernard-Soulier Syndrome: Data from a Brazilian Center

ABSTRACT Introduction: The Glanzmann Thrombasthenia (GT) and Bernard-Soulier Syndrome (BSS) are rare hereditary disorders of platelet function. Their treatment often requires platelet transfusion, which can lead to the development of alloantibodies. Objective: In this study, we aim to develop a strategy for alloantibody detection and to describe the frequency of alloimmunization in a patient population from a single center in southeastern Brazil. Methods: Samples from patients with GT or BSS were tested using the Platelet Immunofluorescence Test (PIFT). If a positive result was obtained, a confirmatory step using the Monoclonal Antibody Immobilization of Platelet Antigens (MAIPA) and Luminex bead-based platelet assay (PAKLx) was executed. Main results: Among 11 patients with GT, we detected the presence of alloantibodies in 5 using PIFT, with confirmation through MAIPA and PAKLx in 2 (1 anti-HLA and 1 anti-HPA), resulting in a frequency of 18.1%. Among 4 patients with BSS, PIFT was positive in 3, with confirmation by MAIPA and PAKLx in 1 (anti-HLA), showing a frequency of 25%. The two patients with anti-HLA antibodies exhibited a panel reactive antibody (PRA-HLA) testing greater than 97%. Conclusion: Our study highlights the importance of identifying platelet alloimmunization in this patient population. The proposed algorithm for platelet alloantibodies detection allows resource optimization.

Resultados subjetivos da lavagem articular e viscossuplementação na artropatia hemofílica / Subjective results of joint lavage and viscosupplementation in hemophilic arthropathy

Objetivo: Avaliar se lavagem articular, viscossupplementação e triancinolona melhoram a dor, função e qualidade de vida de pacientes com artropatia hemofílica grave. Métodos: Quatorze pacientes com poliartrite hemofílica do joelho e/ou tornozelo com ou sem envolvimento de outras articulações foram submetidos a lavagem articular e subsequente injeção de hilano G-F20 e triancinolona em todas as articulações afetadas. Os pacientes responderam aos questionários algo funcionais (Lequesne e WOMAC), escala visual analógica parador (EVA) e SF-36 no pré-operatório, um, três, seis e 12 meses de pós-operatório. Resultados: Dezesseis joelhos, 15 tornozelos,oito cotovelos e um ombro foram tratados em 14 pacientes. Seis pacientes tiveram sangramento musculoesquelético [tornozelo (1),músculo da perna (2) e joelhos (4)] próximo da avalição de três meses afetando os resultados. A dor não melhorou significativamente.A função melhorou (WOMAC p = 0,02, Lequesne p = 0,01).O componente físico do SF-36 melhorou em todos os momentos,exceto em três meses, com melhores resultados após um ano(pré-operatório = 33.4; um mês = 39,6; três meses = 37,6; seismeses = 39,6; um ano = 44,6; p <0,001). Conclusão: A lavagem articular seguida da injeção de triancinolona e hilano G-F20 melhora a função e a qualidade de vida na artropatia hemofílica grave. Nível de Evidência IV, Série de Casos.

Objective: To assess whether joint lavage, viscosupplementation and triamcinolone improve joint pain, function and quality of life in patients with severe hemophilic arthropathy. METHODS: Fourteen patients with knee and/or ankle hemophilic arthritis with and without involvement of other joints underwent joint lavage and subsequent injection of hylan G-F20 and triamcinolone in all affected joints. The patients answered algo-functional questionnaires (Lequesne and WOMAC), visual analog scale for pain (VAS) and SF-36 preoperatively, and at one, three, six and twelve months postoperatively. RESULTS: Sixteen knees, 15 ankles, 8 elbows and one shoulder were treated in 14 patients. Six patients had musculoskeletal bleeding [ankle (1), leg muscle (2) and knees (4)] at 3 months affecting the results. Pain did not improve significantly. Function improved (WOMAC p=0.02 and Lequesne p=0.01). The physical component of SF-36 improved at all time points except at 3 months, with best results at one-year follow-up (baseline = 33.4; 1 month = 39.6; 3 months= 37.6; 6 months 39.6 and 1 year = 44.6; p < 0.001). CONCLUSION: Joint lavage followed by injection of triamcinolone and hylan G-F20 improves function and quality of life progressively up to a year, even in severe hemophilic arthropathy. Level of Evidence IV, Case Series.

Avaliacao da lesao e disfuncao endotelial atraves da analise da trombomodulina e fator de von Willebrand, no grupo multibacilar da hanseniase / ?

A hanseniase e uma doenca infecciosa cronica, cujo curso evolutivo, lento e insidioso, pode ser interrompido por episodios agudos ou subagudos, caracterizando os periodos reacionais. O comprometimento vascular e muito frequente, sendo a vasculite cronica um achado comum no doente multibacilar. Durante os surtos de reacao tipo II foram relatados episodios de tromboses venosa e/ ou arterial, muitas vezes constituindo a causa de obito desses doentes. Analisamos as dosagens plasmaticas de trombomodulina e do antigeno do fator de von Willebrand como marcadores de lesao e disfuncao endotelial, respectivamente, em doentes multibacilares, durante episodios de reacao tipo II e fora dos periodos reacionais. Apos consentimento previo informado, foram coletadas 163 amostras de um total de 34 doentes com hanseniase, formas multibacilares de sofrerem reacao tipo II