La linfohistiocitosis hemofagocítica (HLH) es una entidad clínica poco frecuente, potencialmente mortal. Este síndrome describe a pacientes con hiperinflamación sistémica grave. El diagnóstico se realiza en función de criterios clínicos, genéticos y de laboratorio. Se describen dos tipos principales de HLH: primaria y secundaria. La HLH primaria está asociada a defectos genéticos en: perforina, UNC13D, sintaxina 11, sintaxina BP2, moléculas intervinientes en el mecanismo de citotoxicidad celular. Las HLH secundarias (sLHL) se asocian a causasinfecciosas (virus Epstein Barr -VEB-, tuberculosis -TBC-, brucelosis, leishmaniasis, SARS-CoV-2), reumatológicas (síndrome de activación macrofágica) y hematooncológicas.
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening and generally underdiagnosed clinical entity. This syndrome describes patients with severe systemic hyperinflammation. The diagnosis is made on the basis of clinical, genetic and analytical criteria. Two main types of HLH are described: primary and secondary. Primary HLH is associated with genetic defects in: perforin (PRF), UNC13D, Syntaxin 11, Syntaxin BP2, molecules involved in the mechanism of cellular cytotoxicity. The sHLH are associated with infectious causes such as Epstein Barr virus (EBV), tuberculosis, brucellosis, leishmaniasis and SARS-CoV-2, rheumatologic (in this case it is defined as macrophage activation syndrome) and hemato-oncological causes.
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