Evaluación del ISTH-BAT en los trastornos plaquetarios congénitos: correlación clínica, laboratorio y molecular

CO-153 Introducción: Los trastornos plaquetarios congénitos (TPC) son un grupo heterogéneo de enfermedades raras, que se clasifican en trombocitopenias hereditarias (THs) y en trombocitopatías hereditarias (TFPs). Su identificación inicial y su diagnóstico final son complejos. Éste, se basa en la la historia clínica, la exploración física, pruebas de laboratorio fenotípicas y la confirmación de la alteración molecular subyacente. Por otra parte, la valoración de la clínica hemorrágica suele ser subjetiva, por lo que la Sociedad Internacional de Trombosis y Hemostasia (ISTH) recomienda la utilización de escalas de sangrado (bleeding assessment tools, BAT). Los objetivos de nuestros estudios fueron a) evaluar la clínica hemorrágica con el ISTH-BAT en pacientes diagnosticados de TPC, b) su comparación entre THs y TFPs y c) su relación con las pruebas funcionales y moleculares. Métodos: Estudio retrospectivo de 138 pacientes con TPC incluidos en el proyecto nacional “Caracterización funcional y molecular de los TPC” de la SETH. La clínica hemorrágica se evaluó mediante el ISTHBAT, obteniendo un score de sangrado (BS). El diagnóstico fenotípico se realizó mediante hemograma y frotis de sangre periférica, la función plaquetaria mediante agregometría de transmisión de luz (LTA) y citometría de flujo (CMF) y el diagnóstico molecular mediante secuenciación ..

Joint status in Spanish haemophilia B patients assessed using the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score

Aim: The use of musculoskeletal ultrasound (MSK-US) following protocols for haemophilic arthropathy and the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score can help standardize monitoring in haemophilia. This study evaluated the joint status (elbows, knees and ankles) of patients with haemophilia B (HB) in Spain using MSK-US and the HEAD-US score. Methods: Haemophilia B patients 6514 years old were included in this observational, multicentre, cross-sectional study, regardless of their clinical condition, HB severity and treatment received. Two blinded observers were involved in image acquisition and scoring in each centre. Results: Eighty-two patients from 12 centres were enrolled: 27% mild HB, 23% moderate, 50% severe HB. Mean age was 38.9 \ub1 16.4 years, 60% were treated on demand (OD) and 40% were on prophylaxis. HEAD-US was zero in all joints in 28.6% OD patients and 36.4% on prophylaxis. Mean scores significantly worsened with HB severity, except for the left knee. Patients on primary and secondary prophylaxis had significantly better joint health vs OD patients in all joints, except the right ankle. Among OD patients, those with severe disease presented significantly worse scores in all HEAD-US items related to permanent damage. Conclusion: Joint status of HB patients in Spain is influenced by severity and treatment modality, related to the development of arthropathy, which appears prevalent in OD patients with severe HB. Routine assessment with an imaging tool such as ultrasound and HEAD-US system may help to improve joint health by personalizing and adjusting treatment in this population