What is the patient education for Peutz-Jeghers syndrome (PJS)?

Updated: Oct 11, 2018
  • Author: Buu Anh T To, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Patients with Peutz-Jeghers syndrome (PJS) should be educated about the potential symptoms of intestinal obstruction as well as instructed on the need for cancer surveillance.

In the wake of the discovery of the genetic cause(s) of Peutz-Jeghers syndrome, genetic counseling by someone knowledgeable in this disease should be provided if genetic testing is being considered, particularly as high penetrance autosomal dominant alleles have been described. Genetic counseling relays the risks, benefits, and consequences of genetic testing to the patient. It also informs the patient of the consequences of a positive, negative, or inconclusive genetic test result. In addition, genetic counseling includes information on the risk of transmission to offspring, and it may provide guidance for the patient regarding testing of other family members. [11, 71]

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