Definition

Cyclic neutropenia is a blood disease with periodic fever and an autosomal dominant inheritance and is considered among the periodic fever syndromes / autoinflammatory diseases. Mutations in the elastase gene (ELA2 = ELANE) on chromosome 19p13.3 have been identified as the cause

Occurrence

Incidence 1-2 / million / year. Prevalence 1-9 / 1.

• Disease onset before two years of age is typical, but an adult / adult form also occurs

Symptoms and diagnosis

• Cyclic fever every XNUM. day (21-XNUM days)
• Duration 5-7 days. Wounds in the mouth (stomatitis)
• Periodontitis, Gingivitis, pharyngitis
• Bacterial Sepsis and rare infections. Often Clostridium septicum

• Diagnosis: neutrophils less than 200 / microL at least three to five consecutive days per cycle for at least three regular periods
• Test for ELANE gene mutation

Blood tests: Low neutrophil granulocytes

Medical Prognosis / Life expectancy

• The disease can disappear at the age of 30

Incorrect diagnosis (similar conditions / differential diagnoses)

• Idiopathic (autoimmune) neutropenia: Not uncommon with periodic neutrophilia of 500 - 1000 / microL range, but with chronic benign course. Usually does not have the other symptoms or chronic gingival infection
• TRAPS
• Hyper-IgD
• FMF
• Shwachman syndrome
• Lymphoproliferative disorders of large granular lymphocytes (LDGL)
• Primary Immune Defiency is assessed when cyclic neutropenia and hepatosplenomegaly occur

Treatment

• Granulocyte colony stimulating factor (G-CSF)
• infection Treatment

Literature

• Newburger PE, 2013 (Neutropenia)
• Donadieu J, 2011

Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)

• Bindevevssykdommer.no
• Vaskulitt.no