Living with Hyperplastic polyposis syndrome
A rare genetic condition with many large polyps in the colon and rectum, seen most often in adults.
Understanding Hyperplastic polyposis syndrome
The polyps are usually large and found throughout the colon. They are mostly hyperplastic or serrated types. People and their close relatives (parents, siblings, and children) have a higher risk of colorectal cancer. It usually appears in adults.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Many polyps in the colon and rectum
- Adenomatous colonic polyps
- Stomach pouch (gastric diverticulum)
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 cancer specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RNF43 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
- Cancer specialists (oncologists); 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
Changes in the RNF43 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: serrated polyposis; serrated polyposis syndrome
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 Hyperplastic polyposis syndrome.
Explore research for Hyperplastic polyposis syndrome
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