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Living with Eosinophil peroxidase deficiency

A harmless difference in certain white blood cells that does not cause health problems.

Understanding Eosinophil peroxidase deficiency

Eosinophil peroxidase deficiency is a condition in which certain white blood cells have little or none of a protein, without causing health problems.

Eosinophils are white blood cells that help the immune response. In this condition they have little or no eosinophil peroxidase. This does not seem to affect how they work. It is often found when blood tests are done for other reasons or when a relative is diagnosed.

Signs & symptoms

GARD says this condition does not cause health problems. It lists this finding:

  • Eosinophils with an unusual nucleus shape on blood tests

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Your doctor may refer you to a specialist who knows rare conditions.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    American Partnership For Eosinophilic Disorders may keep lists of experts for this condition.

Care & treatment

Care team
A doctor familiar with rare conditions, plus specialists as needed
Expert care
Expert lists: American Partnership For Eosinophilic Disorders
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with American Partnership For Eosinophilic Disorders
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Does this finding need any follow-up?
Should other family members be tested?
Could this affect my other blood test results?

Quick facts

InheritanceAutosomal Recessive

This condition is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD does not name the gene.

Also known as: eosinophil peroxidase deficiency, partial; epxd; peroxidase and phospholipid deficiency in eosinophils; presentey anomaly

Patient organizations

Source: NIH GARD · Eosinophil peroxidase deficiencyGARD ID 12361 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Eosinophil peroxidase deficiency.

Explore the Eosinophil peroxidase deficiency blog

Explore research for Eosinophil peroxidase deficiency

Explore actively recruiting Eosinophil peroxidase deficiency studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Eosinophil peroxidase deficiency with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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