Hamartomatous polyposis syndromes: a review
Anne Marie Jelsig1, Niels Qvist, Klaus Brusgaard
1Department of Clinical Genetics, Odense University Hospital and Institute of Clinical Research, University of Southern Denmark, Sdr, Boulevard 29, 5000 Odense C, Denmark. anne.marie.jelsig@rsyd.dk.
Orphanet Journal of Rare Diseases
|July 16, 2014
Summary
Hamartomatous Polyposis Syndromes (HPS) are rare genetic disorders characterized by polyps and increased cancer risk. Genetic testing aids diagnosis, enabling personalized management and surveillance for affected individuals and families.
Area of Science:
- Genetics
- Oncology
- Gastroenterology
Background:
- Hamartomatous Polyposis Syndromes (HPS) encompass a group of rare, autosomal dominant genetic disorders.
- These syndromes are defined by hamartomatous polyps in the GI tract and various extra-intestinal manifestations, including cancers.
Purpose of the Study:
- To review the diagnostic challenges and evolving role of genetic testing in Hamartomatous Polyposis Syndromes.
- To emphasize the importance of early diagnosis and tailored management strategies for HPS patients and their families.
Main Methods:
- Review of clinical criteria and diagnostic approaches for HPS.
- Discussion of the impact of germline mutation discovery and genetic testing advancements.
- Overview of syndrome-specific management and surveillance recommendations.
Main Results:
- HPS diagnosis traditionally relies on clinical criteria, complicated by variable symptom severity and de novo mutations.
- Advances in genetic testing now facilitate more frequent and accurate diagnosis.
- Management strategies are syndrome-specific due to differing extra-intestinal symptoms and cancer risks.
Conclusions:
- Early clinical awareness and genetic testing are crucial for timely HPS diagnosis.
- Genetic counseling and surveillance are essential for affected individuals and at-risk family members.
- Lifelong surveillance can prevent or detect complications and reduce cancer risk in HPS patients.
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