RESUMO
Resumen ANTECEDENTES: Las repercusiones del embarazo en el síndrome de plaquetas grises no están definidas, la bibliografía reporta pocos casos; por tanto, los desenlaces no son muy conocidos. OBJETIVO: Describir el caso de una paciente con síndrome de plaquetas grises y embarazo para proponer pautas de atención y recomendaciones para el seguimiento antenatal, peri y posparto en este grupo de pacientes. Además, revisar la bibliografía más reciente. CASO CLÍNICO: Paciente primigesta de 29 años, con diagnóstico de trombocitopenia a partir de los 6 años. Durante el embarazo se consideró de origen genético por lo que se solicitó el exoma clínico que reportó una variante en el gen NBEAL2 c 7244G>T p G1y2415Val homocigoto, con diagnóstico de síndrome de plaquetas grises. Permaneció en seguimiento en los servicios de Hematología y Obstetricia, sin complicaciones mayores; cerca del parto requirió transfusión de plaquetas. A las 39 semanas de embarazo ingresó para atención del parto, se dio prueba de trabajo de parto; sin embargo, por indicación obstétrica (detención de la dilatación) se decidió la finalización mediante cesárea. METODOLOGÍA: Se revisaron las bases de datos de PubMed, LILACS, Medline, Clinical trials de los últimos 20 años. Los MeSH de búsqueda fueron "grey platelet" "syndrome" "pregnancy". Se encontraron 11 artículos de los que se descartaron 2 por estar fuera del rango de tiempo, un artículo duplicado y otros excluían embarazadas. En total se revisaron 9 artículos. CONCLUSIÓN: Este caso muestra que las mujeres con síndrome de plaquetas grises, si son debidamente acompañadas por un equipo interdisciplinario con experiencia pueden tener un embarazo y parto seguros.
Abstract BACKGROUND: The repercussions of pregnancy in grey platelet syndrome are undefined, with few cases reported in the literature; therefore, outcomes are not well known. OBJECTIVE: To describe the case of a patient with grey platelet syndrome and pregnancy in order to propose care guidelines and recommendations for antenatal, peri- and postpartum follow-up in this group of patients. In addition, to review the most recent literature. CLINICAL CASE: A 29-year-old primigravida patient diagnosed with thrombocytopenia since the age of 6. During pregnancy it was considered to be of genetic origin, so the clinical exome was requested, which reported a variant in the NBEAL2 c 7244G>T p G1y2415Val homozygous gene, with a diagnosis of grey platelet syndrome. She remained under follow-up in the haematology and obstetrics departments, without major complications; close to delivery she required platelet transfusion. At 39 weeks of pregnancy, she was admitted for delivery care, proof of labour was given; however, due to obstetric indications (arrest of dilatation) it was decided to terminate the pregnancy by caesarean section. METHODOLOGY: The databases of PubMed, LILACS, Medline, Clinical trials of the last 20 years were reviewed. The MeSH search terms were "grey platelet" "syndrome" "pregnancy". Eleven articles were found of which two were discarded for being out of time range, one article duplicated and others excluded pregnant women. In total 9 articles were reviewed. CONCLUSION: This case shows that women with grey platelet syndrome, if properly supported by an experienced interdisciplinary team, can have a safe pregnancy and delivery.
RESUMO
The gray platelet syndrome (GPS) is a rare platelet disorder, characterized by impaired alpha-granule biogenesis in megakaryocytes and platelets due to NBEAL2 mutations. Typical clinical features include macrothrombocytopenia, bleeding and elevated vitamin B12 levels, while bone marrow fibrosis and splenomegaly may develop during disease progression. Recently, the involvement of other blood lineages has been highlighted, revealing the role of NBEAL2 outside the megakaryocyte-platelet axis. Low leukocyte counts, decreased neutrophil granulation and impaired neutrophil extracellular trap formation represent prominent findings in GPS patients, reflecting deranged innate immunity and associated with an increased susceptibility to infection. In addition, low numbers and impaired degranulation of NK cells have been demonstrated in animal models. Autoimmune diseases involving different organs and a spectrum of autoantibodies are present in a substantial proportion of GPS patients, expanding the syndromic spectrum of this disorder and pointing to dysregulation of the adaptive immune response. Low-grade inflammation, as evidenced by elevation of liver-derived acute-phase reactants, is another previously unrecognized feature of GPS which may contribute to disease manifestations. This review will focus on the mechanisms underlying the pathogenesis of blood cell abnormalities in human GPS patients and NBEAL2-null animal models, providing insight into the effects of NBEAL2 in hemostasis, inflammation and immunity.