_ ERN-RITA_
Versione in italiano
WHAT IS IT
The definition of congenital neutropenia includes a heterogeneous group of rare disorders that are characterized by a reduction in the number of circulating neutrophils. Neutrophils are the main defense against bacterial and fungal infections. Therefore, if the neutropenia is severe, the risk of developing even serious bacterial and fungal infections increases. When neutropenia is present, the inflammatory response to these infections is ineffective. Patients with severe congenital neutropenia have an increased risk of developing myelodysplasia or acute myeloid leukemia.
HOW IS IT RECOGNIZED
Neutropenia should be suspected in patients with frequent, severe or atypical bacterial and/or fungal infections. Confirmation is given by the blood count including leukocytes subsets. Neutropenia remains asymptomatic until infection develops. The severity of neutropenia is directly related to the relative risk of infection. The infections that most frequently occur in patients with profound neutropenia are cellulitis, pyodermitis, pneumonia, septicemia. Fever is often the only indication of the infectious state. Typical signs of focal inflammation (erythema, swelling, pain, infiltrates) may be attenuated or absent. Local symptoms (eg, oral ulcers) may appear, but in most cases they are minimal. The mechanism and cause of neutropenia must be determined. Family history or the presence of other concomitant diseases can rise the suspicion of genetic origin. It is necessary to perform a bone marrow examination to determine if the neutropenia is due to reduced production of neutrophils. Supplementary marrow studies are also performed. All these investigations help to narrow the field of possible responsible genes (for example: hair-cartilage hypoplasia syndrome, Chédiak-Higashi syndrome, dyskeratosis congenita, glycogenosis type IB, Shwachman-Diamond syndrome, WHIM syndrome, i.e. warts, hypogammaglobulinemia, infections, myelokathexis). In fact, genetic analysis on peripheral blood are performed with the aim of identifying the precise defect that determines the neutropenia.
HOW DO WE TREAT IT
Most patients with severe congenital neutropenia respond to chronic granulocyte colony stimulating factor (G-CSF) therapy, but haematopoietic stem cell transplantation may be needed for patients with poor response.
REFERRING DOCTORS for this desease
at Ospedale San Raffaele
