Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

What it is

From: Orphanet

A rare, secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are lukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.

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.

Abnormal circulating interleukin concentration · Very frequent (99-80%)

The concentration of an interleukin (a class of cytokines) is outside the limits of normal.

Abnormal renal physiology · Very frequent (99-80%)

An abnormal functionality of the kidney.

Elevated circulating C-reactive protein concentration · Very frequent (99-80%)

The concentration of C-reactive protein in the blood circulation is above the upper limit of normal.

Fever · Very frequent (99-80%)

Body temperature elevated above the normal range.

Hemophagocytosis · Obligate (100%)

Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.

Immune dysregulation · Very frequent (99-80%)

Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.

Increased circulating ferritin concentration · Very frequent (99-80%)

Increased concentration of ferritin in the blood circulation.

Pancytopenia · Very frequent (99-80%)

An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).

Reduced natural killer cell count · Very frequent (99-80%)

The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal.

Splenomegaly · Very frequent (99-80%)

Abnormal increased size of the spleen.

Anemia · Frequent (79-30%)

A reduction in erythrocytes volume or hemoglobin concentration.

Decreased total neutrophil count · Frequent (79-30%)

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

Elevated circulating hepatic transaminase concentration · Frequent (79-30%)

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Hematological neoplasm · Frequent (79-30%)

Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).

Other findings in the same source

From: Orphanet

Additional reported features include Hyperbilirubinemia (Frequent (79-30%)); Hypertriglyceridemia (Frequent (79-30%)); Hypofibrinogenemia (Frequent (79-30%)); Increased circulating lactate dehydrogenase concentration (Frequent (79-30%)); Thrombocytopenia (Frequent (79-30%)); Acute lymphoblastic leukemia (Occasional (29-5%)); Acute myeloid leukemia (Occasional (29-5%)); B-cell lymphoma (Occasional (29-5%)); Burkitt lymphoma (Occasional (29-5%)); CSF pleocytosis (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

All ages

Which doctor should you see?

The suggested department for discussing Acquired hemophagocytic lymphohistiocytosis associated with malignant disease 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

Where the source describes treatments, these are an overview of possible care, not a prescription for an individual. Ask which option applies to the confirmed diagnosis, what benefit is expected, what adverse effects to watch for and how progress will be assessed. Availability, approvals and local practice can differ from the country described in the source.

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.