Haemo phagocytal syndrome

Description:

The haemo phagocytal syndrome as nosological form includes, to a privodyashcheerupp of inborn and acquired diseases which cornerstone disturbance of regulation of an immune response to abnormal activation of cytotoxic T lymphocytes and macrophages, and development of the inflammatory damage of the struck bodies mediated by them is. The concept "hemophagocytosis" designates a pathomorphologic phenomenon of phagocytosis of mature uniform elements of blood fabric macrophages. The phenomenon of a hemophagocytosis is eurysynusic and is not a synonym of a haemo phagocytal limfogistiotsitoz as nosological form.
The attention to a haemo phagocytal syndrome in practice of infectiologists is caused by the fact that at a diagnosis stage patients with classical hereditary forms of a haemo phagocytal limfogistiotsitoz, owing to features of the clinical presentation, are often observed in infektsionkny hospitals with alternative diagnoses, such as "sepsis" or "a pre-natal infection" and, often, the istinkny diagnosis is established with a dangerous delay. On the other hand, the current of a number of banal infections can be complicated by development of the zhizneugrozhayushchy secondary haemo phagocytal syndrome demanding in addition to standard causal treatment, performing the immunomodulatory and immunosuppressive therapy directed to control of pathological activation of an immune response.
According to the classification accepted by Society on an izuchekniya of histiocytoses in 1997 haemo phagocytal limfogi-stiotsitoz treats group of diseases with a variable clinical current. Carry to primary, that is genetically determined haemo phagocytal syndromes family haemo phagocytal лимфогистиоцитоз and a number of rare primary immunodeficiences. Carry the forms developing in the context of infectious, tumoral and autoimmune diseases to secondary gemofagotsitar-ny syndromes.
It is necessary to emphasize that in process of interpretation of molekuklyarny mechanisms of development of haemo phagocytal syndromes the border between secondary and genetically determinirovankny limfogistiotsitoza loses clearness.
Family haemo phagocytal лимфогистиоцитоз
The disease is for the first time described in 1952 by J.W.Farquhar and A.E.Claireaux

Symptoms of the Haemo phagocytal syndrome:

Clinically haemo phagocytal syndrome is shown by long fever, refractory to antibiotics, a splenomegaly, an edematous syndrome, a hemorrhagic syndrome, a hepatomegalia, symptoms of damage of the central nervous system (1; 2).
The disease begins, as a rule, sharply. The trigger of clinical manifestation of a disease are banal infections. Physical and psychomotor development of the patient until development of a haemo phagocytal syndrome usually does not suffer. At the 1st stage of inspection often diagnose "a pre-natal infection" or (at later stages of a course of a disease) "sepsis", "encephalomeningitis". Not stopped fever and the phenomena of intoxication become the hospitalization reason in an infectious hospital where at inspection often it is possible by laboratory methods to confirm infection with a widespread pathogen. Purpose of causal treatment does not lead to significant improvement of a condition of the patient. Temporary improvement a sostoyakniya can be observed at purpose of corticosteroids "on weight of a state". Fever remains, the gepatosplenomegaliya progresses, there is a hemorrhagic syndrome, the neurologic symptomatology including irritability, vomiting/vomiting, refusal of food, a spasm, meningeal signs accrues. In some cases the beginning of a disease passes behind a mask of the isolated encephalitis, encephalomyelitis which repeated attacks lead to formation of resistant neurologic deficit.
Clinical displays of a disease are supplemented with the characteristic laboratory changes obligatno including a cytopenia of peripheral blood with involvement of the 2nd and more sprouts of a hemopoiesis. As a rule, at early stages reveal anemia and thrombocytopenia, then, in process of a disease progression, the leukopenia and a neutropenia develops. Development of a coagulopathy, the most often shown hypofibrinogenemia is characteristic, is more rare - total hypocoagulation. Among indicators of biochemical analysis of blood the gipertriglitseridemiya, a hypoalbuminemia, a hyponatremia, increase in level, bilirubin, a lactate dehydrogenase are most characteristic. Increase in content of ferritin of serum, sometimes to extreme level is characteristic (> 10 000 mkg/l). In the analysis of cerebrospinal fluid find a moderate lymphocytic and monocytic pleocytosis, increase in level of protein. In a miyelogramma at standard coloring the polymorphic picture of marrow with the activated monocytes/macrophages, the phenomena of phagocytosis of cellular elements is noted (erythrocytes, is more rare - thrombocytes and leukocytes). The most specific laboratory manifestation of a haemo phagocytal syndrome is decrease in NK cellular cytotoxicity.

Reasons of the Haemo phagocytal syndrome:

Development of these symptoms is the cornerstone of disturbance of regulation of an immune response to abnormal activation of cytotoxic T lymphocytes and macrophages. Incidence of a family haemo phagocytal limfogistiotsitoz makes about 1 case on 1000000 children up to 15 years a year or 1 on 50 000 newborns a year. Clinical manifestation of a disease develops at most of patients on the first year of life, is rare - at the birth, approximately at 20% of children the first clinical signs of a disease appear aged is more senior than 3 years.

Treatment of the Haemo phagocytal syndrome:

The modern strategy of therapy of a family haemo phagocytal limfogistiotsitoz obligatno includes consecutive carrying out the combined immunosuppressive chemotherapy and transplantation of the hemopoietic stem cells. Basic drugs are dexamethasone, этопозид and cyclosporine A. The standard protocol of therapy is the HLH-2004 protocol.