
Living with Eosinophil peroxidase deficiency
A harmless difference in certain white blood cells that does not cause health problems.
Understanding Eosinophil peroxidase deficiency
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
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect 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
Quick facts
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
- American Partnership For Eosinophilic DisordersEosinophil peroxidase deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Eosinophil peroxidase deficiency.
Explore research for Eosinophil peroxidase deficiency
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- Recruiting studies from ClinicalTrials.gov
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- 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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