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Neutropenia (Severe Chronic)

Background

There are four main groups of severe chronic neutropenia (SCN). Neutrophils are the most numerous white cells in the blood. In SCN, individuals have below normal numbers of neutrophils, the white blood cells which combat bacterial infections. The lack of neutrophils results in the individual having an impaired ability to fight infection. SCN affects people of both sexes and all ethnic groups with a possible predominance in Caucasian people. SCN is rare with an incidence thought to be about 1 to 2 in 1,000,000.

SCN types are:

  • congenital neutropenia in which diagnosis is usually made soon after birth. Congenital neutropenia can be inherited or sporadic (with no other affected family members but still of genetic cause)
  • cyclical neutropenia is a form of SCN, with neutropenia occurring over a period of about three to seven days in a cycle of 21 days. Cyclical neutropenia is often caused by mutations of the ELA2 gene on chromosome 19
  • idiopathic neutropenia is the name given to children and adults described as neutropenic in which no clear cause can be found. Affected people may have had a normal blood cell count in the past. Idiopathic neutropenia is usually a relatively mild condition
  • autoimmune neutropenia is most common in infants and young children. The body identifies the neutrophils as enemies and makes antibodies to destroy them. Children usually grow out of it within two years of diagnosis.

Credits

Medical text written October 2005 by Contact a Family. Approved October 2005 by Dr P Ancliff, Consultant Haematologist, Great Ormond Street Hospital, London, UK.

What are the symptoms?

In SCN frequent infections can develop very rapidly due to the impaired ability of children to combat them. Infections include:

  • mouth ulcers and gingivitis (inflammation of the gums);
  • sore throat
  • chest infections
  • diarrhoea
  • burning sensation when urinating
  • unusual redness, pain, or swelling around a wound
  • high fevers and chills
  • exhaustion and lethargy.

What are the causes?

The cause of SCN differs according to the specific type and can be hereditary, autoimmune (in which the body destroys its own neutrophils), related to bone marrow production or idiopathic (of unknown cause).

How is it diagnosed?

Diagnosis of the different types of SCN is made by blood tests and bone marrow aspiration and biopsy (examination).

How is it treated?

Granulocyte Colony Stimulating Factor (G-CSF) is used in the management of SCN and can significantly improve the quality of life by stimulating the bone marrow to produce neutrophils to fight infections. G-CSFs are given by an injection just under the skin using a very small needle. To make this less painful, a local-anaesthetic cream can be applied to the site half an hour before the injection is due. Prophylactic antibiotics may be given in addition, or are often effective alone for less severely affected individuals.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Congenital neutropenia is typically sporadic but autosomal dominant and recessive cases are also described. Cyclical neutropenia is typically autosomal dominant but can be sporadic (with no other affected family members).

Prenatal diagnosis
This is theoretically possible if a causative mutation is identified. It is usual to find a mutation in around 60 to 70 per cent of cases of severe congenital neutropenia and cyclical neutropenia.

Is there support?

There is no support group for Neutropneia (Severe Chronic) in the UK. Families can use Contact a Family's freephone helpline for advice, information and, where possible, links to other families.

Contact a Family's web-based linking service can be accessed at community.cafamily.org.uk