Clinical Guidance

Congenital Neutropenia

Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In both conditions, individuals have fever and recurrent skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, pharyngitis, and cervical adenopathy). In congenital neutropenia, diarrhea, pneumonia, and deep abscesses in the liver, lung, and subcutaneous tissues are common. Omphalitis immediately after birth may be the first sign . Bacteremia occurs infrequently but has severe consequences in affected individuals. Most congenital neutropenia is diagnosed because of fever and severe infection in infants and young children.

Diagnostic Criteria

ELANE-related neutropenia represents a clinical spectrum that includes congenital neutropenia, cyclic neutropenia, and intermediate findings between these two phenotypes. Identification of the precise clinical phenotype is helpful for diagnosis, prognosis, and management.

Suggestive Findings

ELANE-related neutropenia should be suspected in individuals with the following clinical and supportive laboratory findings.

Clinical features

• Severe or recurrent infections

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with ELANE-related neutropenia, the following are recommended if they have not already been completed:

• Dental examination for gingival and periodontal disease

Surveillance Guidelines

For those individuals with congenital neutropenia not undergoing HSCT, surveillance for evidence of malignant transformation to MDS/AML is critical to allow early therapeutic intervention. Observation should include the following:

• General evaluations by parents and medical personnel several times a year

• Blood counts several times a year