Adult idiopathic neutropenia

What it is

From: Orphanet

A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Decreased total neutrophil count · Obligate (100%)

Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.

Helicobacter pylori infection · Very frequent (99-80%)

A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.

Abnormality of bone marrow cell morphology · Frequent (79-30%)

An anomaly of the form or number of cells in the bone marrow.

Lymphopenia · Frequent (79-30%)

A reduced number of lymphocytes in the blood.

Recurrent bacterial infections · Frequent (79-30%)

Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection.

Recurrent infections · Frequent (79-30%)

Increased susceptibility to infections as manifested by repeated bouts of infection.

Bone marrow hypercellularity · Occasional (29-5%)

A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.

Fever · Occasional (29-5%)

Body temperature elevated above the normal range.

Granulocytic hypoplasia · Occasional (29-5%)

Decreased number of granulocyte precursors in the bone marrow.

Increased circulating IgM level · Occasional (29-5%)

An abnormally increased level of immunoglobulin M in blood.

Monocytopenia · Occasional (29-5%)

Abnormal decrease of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group.

Recurrent aphthous stomatitis · Occasional (29-5%)

Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.

Increased total monocyte count · Very rare (<4-1%)

Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group.

Recurrent fungal infections · Very rare (<4-1%)

Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection.

When it may begin

From: Orphanet

Adult

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Annual incidence: Unknown; Worldwide; Class only. Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Adult idiopathic neutropenia is Allergy and Immunology, with a allergist / clinical immunologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Does the history suggest an allergy, an immune problem or another explanation?
• How would any proposed allergy or immune test change care?
• Is an individual emergency plan needed, and who should understand it?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Adult idiopathic neutropenia. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.