Contents
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
Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)
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