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[794][795][796][797]

Background Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that females often develop the disease, data from Spain and other countries reported that females were undertreated. The aim of this study was to provide a wider and more recent description of the disease characteristics and associated management of females with a GLA variant in a Spanish cohort. Results Ninety-seven females from 12 hospitals were included in this retrospective study. Mean age was 50.1 ± 17.2 years. Median follow-up time from GLA variant identification was 36.1 months, and most (70.1%) were identified through family screening. Variants associated with classic/non-classic phenotypes were similarly distributed (40.2%/53.6%). Missense variants were the most prevalent (n = 84, 86.6%). In the overall group, 70.4% had major organ involvement (i.e., cardiac, renal, cerebrovascular, peripheral nervous system or gastrointestinal), and 47.3% also had typical Fabry signs (angiokeratoma, cornea verticillata or increased plasma lyso-Gb3). Cardiac involvement was the most prevalent (49.5%) and the main reason for treatment initiation. A total of 33 (34%) patients received disease-specific therapy, 55% of whom were diagnosed by family screening. Females carrying variants associated with a classic phenotype had higher frequencies of clinical manifestations (92.3%) and were predominant in the treated subgroup (69.7%). Despite this, there were 34 untreated females (56.7% of total untreated), with both phenotypes represented, who had major organ involvement, with 27 of cardiac, renal or cerebrovascular nature. Age or comorbidities in this subgroup were comparable to the treated subgroup (P = 0.8 and P = 0.8, respectively). Conclusions Efforts have been made in recent years to diagnose and treat timely Fabry females in Spain. A high percentage of females with pathogenic variants, regardless of their associated phenotype, will likely develop disease. A proportion of females with severe disease in this cohort received specific treatment. Still a significant number of females, even with same profile as the treated ones, who may be eligible for treatment according to European recommendations, remained untreated. Reasons for this merit further investigation.

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Highlights Hydroxychloroquine (HCQ) has been widely used to treat COVID-19 worldwide even without good evidence of efficacy. We analyzed the changes occurring in the QTc interval and their predictors in patients treated with HCQ-containing regimens for COVID-19. Evidence of myocardial injury with elevated troponin and strong inflammatory response, specifically higher neutrophil-to-lymphocyte ratio, were major contributors to moderate-to-severe QTc prolongation requiring careful QTc interval monitoring. In this closely screened and monitored cohort, no complications derived from QTc prolongation were observed.

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INTRODUCCIÓNLa mastocitosis sistémica (MS) es una enfermedad clonal de los progenitores mastocíticos de la médula ósea. El cuadro clínico en la MS varía desde una forma asintomática (indolente) a una forma altamente agresiva con una supervivencia muy corta (leucemia de mastocitos) (1).En 1869, Nettleship describió la urticaria pigmentosa (UP) y en 1887, Unna describió un amento en el número de mastocitos en la UP. Fue ya en 1949, cuando Ellis describió una enfermedad sistémica asociada a hiperplasia de mastocitos.La mayoría de los pacientes afectos son adultos, aunque la enfermedad puede ocurrir a cualquier edad. En función del momento de aparición de los síntomas, en especial, de las [0212-7199 (2008) RESUMENLa mastocitosis es una enfermedad definida por un crecimiento anormal y por la acumulación de mastocitos. En la clasificación de consenso de la OMS del 2001, se distinguió entre procesos bien limitados a piel (mastocitosis cutánea) o bien acumulados a nivel de otros tejidos: médula ósea y/u otros órganos extracutáneos (mastocitosis sistémica) como huesos, hígado, bazo o ganglios linfáticos (70% afectación ósea, con patrón osteolítico u osteoblástico, seguida de 50% de hepatoesplenomegalia).La sintomatología más común en estos enfermos es la afectación de la piel por urticaria pigmentosa (más frecuente en la infancia) o telangiectasia macularis pertans (más frecuente en adultos) donde los mastocitos pueden estar recluidos mucho tiempo, con clínica que proviene de sus mediadores, siendo los niveles de triptasa el reflejo de la carga tumoral. El manejo de esta enfermedad se basa en la administración de tratamiento sintomático con antagonistas de histaminas H1 y H2, así como cromoglicato disódico, necesitando terapia citorreductora sólo en las variantes agresivas de mastocitos sistémica (asociadas a mutación del receptor de tirosin kinasa c-kit D816V) o asociadas a SMP (proliferación de mastocitos e hipereosinofilias asociado a la expresión del gen de fusión FIP1L1-PDGFRA).El interferón tiene un efecto beneficioso sobre los síntomas dermatológicos, hematológicos, gastrointestinales y sistémicos, así como en los esqueléticos, debido a su capacidad de aumentar la densidad ósea y reducir los episodios dolorosos, siendo beneficioso el tratamiento inicial con prednisona.