What Is Peutz-Jaeger Syndrome?


1 Answers

Julii Brainard Profile
Julii Brainard answered
It's a rare genetic condition resulting in possible health problems.

The condition was first described in the 1950s. It is considered autosomal dominant (single dominant gene causes it, and that gene inherited from either parent). But some cases have been recorded of it arising as a result of spontaneous mutation (where neither parent had it but their child does).

The condition involves polyp growth in the digestive tract. The polyps interfere with digestion to a small extent, but their main impact is that they tend to bleed, putting the person at risk of chronic anaemia.

In extreme cases a sufferer may need a blood transfusion to prevent imminent organ damage due to the anaemia. In most cases, the person with Peutz-Jaeger can live a long and normal life by taking low-dose iron supplements to make up for the small and chronic blood loss.

Evidence is mixed about whether the polyps caused by Peutz-Jaeger Syndrome (PJS) are likely to turn cancerous. Monitoring of the polyps using keyhole surgery techniques is recommended for people with PJS, just in case.

People with Peutz-Jaeger tend to have a distinctive external characteristic: Freckles on the lips and even on the palms of the hands.
thanked the writer.
TIM Mitchell
TIM Mitchell commented
I heartily disagree with the answer to this question. I have PJS and can tell you there are a few errors in scavenger's answer.
"Live a long and healthy live by taking iron supplements" - PJS requires frequent monitoring and removal of polyps in the intestinal tract and this is usually done by colonoscopies, endoscopies and double-balloon endoscopies not key-hole. All frequent monitoring lungs, heart, pancreas, testicles, breasts, urethra, spleen and kidneys is required (usually by CAT and/or MRI) as PJS sufferers have a greatly increased chance of developing cancers.
Intestinal polyps can and do turn cancerous and must be removed for people with PJS and other genetic polyps disorders.
'Just in case' is a terrible understatement - regular monitoring is obligatory - many sufferers die because they get fed up with the testing and their polyps develop into cancer
Anonymous commented
I also have to diagree with scavenger's answer . If you have been diagnosed with PjS you will need ongoing medical screening , my son almost died for intersuseption of the bowel this happens when a pjs polyop grows so big that it blocks the bowel , the bowel then starts to telescope in on its slelf and starts to die due to lack of blood supply. There is also a much bigger risk of pjs suffers developing cancer according to some research to 85% of patients will go on to develop some type of cancer
Anonymous commented
My 6 yr old Granddaughter has this....she'll be under going a colonoscopy & an endoscopy 1 April 2010.......she'll also have to have mamograms done starting at the age of 20.....instead of 40...she's already on FE meds....

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