Living with Chronic enteropathy associated with SLCO2A1 gene
A rare genetic condition with long-lasting ulcers in the small intestine that cause blood and protein loss.
Understanding Chronic enteropathy associated with SLCO2A1 gene
The ulcers cause chronic loss of blood and protein. They are shallow and sharply bordered, with irregular round or line shapes. GARD lists onset from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD says they include:
- Belly pain
- Low red blood cells (anemia)
- Tiredness (fatigue)
- Swelling (edema)
- Diarrhea
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 digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLCO2A1 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
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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
GARD says changes in the SLCO2A1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ceas; chronic enteropathy associated with solute carrier organic anion transporter family member 2a1 gene
Patient organizations
Rare-disease groups that can help
- 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 Chronic enteropathy associated with SLCO2A1 gene.
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