Living with Hyperzincemia and hypercalprotectinemia
A rare genetic condition affecting how the body handles zinc, with repeated infections, inflammation, and anemia.
Understanding Hyperzincemia and hypercalprotectinemia
People often have repeated infections, an enlarged liver and spleen, and a type of anemia that does not improve with iron. They usually have long-lasting inflammation and very high levels of zinc and a protein called calprotectin in the blood. Common symptoms include painful skin sores or inflamed patches, joint pain, frequent nosebleeds, and unexplained bruising. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes these:
- Repeated infections
- Enlarged liver and spleen
- Anemia that does not improve with iron
- Painful skin sores or inflamed patches
- Joint pain
- Frequent nosebleeds and bruising
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
Specialists who may be involved include autoimmune and inflammatory disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PSTPIP1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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
Changes in the PSTPIP1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: aiczc; hyperzincemia with functional zinc depletion; hzhc syndrome; recurrent infection, inflammatory syndrome due to zinc metabolism disorder syndrome; recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyperzincemia and hypercalprotectinemia.
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