Síndrome hemofagocítico

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is an unusual clinical entity. There are primary forms, oftentimes aggressive presenting in the first weeks of life, and those secondary to immunodeficiencies, metabolic diseases, infections, neoplasms… with variable severity. An exuberant immune response mediated by cytotoxic T lymphocytes and natural killer (NK) cells, continuously hyperstimulated by an inflammatory environment, is the origin of the disease. The clinical spectrum of presentation is varied, and can sometimes mimic other serious diseases such as acute liver failure or meningoencephalitis. The diagnosis is based on genetics, clinical and analytical criteria. Frequently, not all criteria are present at the same time, appearing progressively, thus a continuous level of suspicion is recommended. Without treatment, prognosis of the disease is unfavorable. The therapeutic objective is to control inflammation by immunosuppression. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for primary forms. There are no preventive measures that have been proved effective in reducing the frequency of this phenomenon. In primary forms where there is a known alteration, genetic counselling is indicated.