Living with Pancreatic insufficiency-anemia-hyperostosis syndrome
A rare inherited condition with trouble digesting food, anemia, and thickened skull bones, starting in infancy.
Understanding Pancreatic insufficiency-anemia-hyperostosis syndrome
It affects the pancreas, the blood, and the bones of the skull. The pancreas doesn't make enough digestive enzymes, red blood cells aren't made properly (anemia), and the skull bones overgrow (calvarial hyperostosis). It is a mitochondrial disease, which means it involves the cell's energy-making parts. Signs start in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble digesting food (exocrine pancreatic insufficiency)
- Anemia
- Overgrowth of the skull bones
- Greasy stools (steatorrhea)
- Poor weight gain
- Enlarged liver or spleen
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 blood and bone marrow specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in COX4I2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation and other patient organizations
- 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 COX4I2 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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