Living with Peutz-Jeghers syndrome
An inherited condition with polyps in the gut, dark spots on the lips and mouth, and a higher chance of some cancers.
Understanding Peutz-Jeghers syndrome
The growths are hamartomatous polyps, mostly in the stomach and intestines. They appear in childhood or adolescence and can cause bowel blockages, ongoing bleeding, and belly pain. Children often have small, dark spots on and around the lips and mouth, and sometimes on the hands and feet. These often fade with age. Cancers of the gut, pancreas, cervix, ovary, and breast are among those most often reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dark spots on the lips and inside the mouth
- Polyps in the stomach and intestines
- Bleeding in the digestive tract
- Belly pain
- Bowel blockages
- Higher chance of certain cancers
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in STK11 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
FORCE: Facing Our Risk of Cancer Empowered may keep lists of experts for this condition.
Care & treatment
- Care team
- Cancer specialists (oncologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: FORCE: Facing Our Risk of Cancer Empowered
- 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 FORCE: Facing Our Risk of Cancer Empowered 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 STK11 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: colonic hamartomatous polyp; gastric peutz-jeghers polyp; hamartomatous intestinal polyposis; jeghers-peutz syndrome; perioral lentiginosis; periorificial lentiginosis syndrome
Patient organizations
- FORCE: Facing Our Risk of Cancer EmpoweredPeutz-Jeghers syndrome · United States
- American Cancer SocietyPeutz-Jeghers syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Peutz-Jeghers syndrome.
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