In this episode of Bowel Sounds, hosts Dr. Jennifer Lee and Peter Lu talk to Dr. Carol Durno and Melyssa Aronson about Lynch Syndrome and Constitutional Mismatch Repair Deficiency (CMMRD). This is a rare disorder that all gastroenterologists should consider when a polyp is found. Early diagnosis, early screening is critical to the survival of these children.
Learning Objectives
1) To define and describe the clinical presentation of Constitutional Mismatch Repair Deficiency (CMMRD) and how it differs from Lynch Syndrome
2) To examine diagnostic strategies for patients with CMMRD and their families
3) To explain key components of detailed family history and provide strategies to ask sensitive questions such as consanguinity
4) To outline the screening recommendations for GI and non-GI cancers in CMMRD
As always, the discussion, views, and recommendations in this podcast are the sole responsibility of the hosts and guests and are subject to change over time with advances in the field.
Produced by: Jennifer Lee
This episode may be eligible for CME credit! Once you have listened to the episode, click this link to claim your credit. Credit is available to NASPGHAN members (if you are not a member, you should probably sign up). And thank you to the NASPGHAN Professional Education Committee for their review!
As always, the discussion, views, and recommendations in this podcast are the sole responsibility of the hosts and guests and are subject to change over time with advances in the field.
Check out our merch website!
Follow us on Bluesky, Twitter, Facebook and Instagram for all the latest news and upcoming episodes.
Click here to support the show.
