Living with Cryptogenic multifocal ulcerous stenosing enteritis
A rare intestinal disease with scarring and shallow ulcers in the small intestine that can cause blockage and anemia.
Understanding Cryptogenic multifocal ulcerous stenosing enteritis
It can cause chronic or relapsing partial bowel blockage. People may have long-term iron-deficiency anemia from blood loss in the gut, recurrent belly pain, fatigue, swelling, or slow growth. Some have dry eyes and mouth, joint pain, or Raynaud's phenomenon. It can start from childhood to adulthood.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary mentions these:
- Long-term or recurring bowel blockage
- Iron-deficiency anemia
- Recurrent belly pain
- Fatigue
- Swelling
- Slow growth
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 PLA2G4A 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
It is caused by changes in the PLA2G4A gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cmuse
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 Cryptogenic multifocal ulcerous stenosing enteritis.
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