_ ERN-RITA_
Versione in italiano
WHAT IS IT
Cyclic neutropenia is a disease of hematopoiesis, the process of production and maturation of all blood cells (white blood cells, red blood cells, platelets) starting from immature cells (precursors). It is an inherited genetic disorder characterized by marked and regular fluctuations in the number of neutrophils, which can range from near normal to extremely low levels (<200 neutrophils / microliter).
HOW IS IT RECOGNIZED
Episodes of neutropenia occur at regular intervals of approximately 20 days. Sometimes the cycles are shorter (14 days) and others are longer (more than 30 days). The clinical manifestations, therefore, are characterized by recurrent oscillations, with symptomatic phases alternating with periods of well-being. Neutrophils are white blood cells dedicated to defending us from infections. Thus, symptoms usually appear starting from the first year of life represented by recurrent fever, gingivitis, pharyngo-tonsillitis, sinusitis, otitis, dental abscesses, oral ulcers and cellulitis.
Patients with cyclic neutropenia can also present with severe infections, such as acute peritonitis and ileocolitis which can develop into bacteremia and sepsis from clostridia and gram-negative bacteria. Patients who have had chronic neutropenia in early childhood and with a history of recurrent fevers and chronic gingivitis should perform a white blood cell count with formula 3 times / week for 6 weeks, in order to evaluate the periodic course, which can be suggestive of cyclic neutropenia. At the same time, the number of platelets and reticulocytes is assessed. In patients with cyclic neutropenia, eosinophils, reticulocytes and platelets frequently have a cycle synchronized with neutrophils, while monocytes and lymphocytes can have a different cycle.
To confirm the diagnosis, genetic analysis is required to search for mutations in the ELANE gene, which is present in 90-100% of patients with cyclic neutropenia.
HOW DO WE TREAT IT
All infectious episodes, particularly those associated with abdominal pain, should be treated quickly and aggressively with broad-spectrum antibiotics and with Granulocytes Colony Stimulating Factor (G-CSF), which can be used as a drug to increase the number of circulating granulocytes.
Chronic administration of G-CSF results in an improvement in symptoms and a reduction of infectious episodes.
Hematopoietic stem cells transplantation, however, represents the only definitive cure for this disease and particularly it is the only therapeutic option for patients unresponsive to G-CSF administration.
REFERRING DOCTORS for this desease
at Ospedale San Raffaele
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