What is the prevalence of Peutz-Jeghers syndrome?
How many people does Peutz-Jeghers syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Peutz-Jeghers syndrome is a rare genetic disorder characterized by the development of polyps in the gastrointestinal tract and pigmented spots on the lips, mouth, and other areas. It affects approximately 1 in 25,000 to 300,000 individuals worldwide. The syndrome is caused by mutations in the STK11 gene. While it can occur in people of any ethnic background, it appears to be slightly more prevalent in certain populations. Early diagnosis and regular monitoring are crucial for managing the associated health risks and providing appropriate medical care.
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by the development of polyps in the gastrointestinal tract and distinctive pigmented spots on the lips, mouth, hands, and feet. The prevalence of PJS is estimated to be around 1 in 25,000 to 1 in 300,000 individuals worldwide.
PJS affects both males and females equally and can manifest at any age, although symptoms typically appear in childhood or adolescence. The condition is caused by mutations in the STK11 gene, which is responsible for regulating cell growth and division.
While PJS is considered a rare disorder, it is important to note that the prevalence may vary among different populations. Studies have shown higher rates of PJS in certain ethnic groups, such as Ashkenazi Jews and individuals from the Netherlands. However, due to the rarity of the condition, accurate prevalence data can be challenging to obtain.
Early diagnosis and regular surveillance are crucial for individuals with PJS, as they have an increased risk of developing various types of cancer, including gastrointestinal, breast, ovarian, and pancreatic cancers. Genetic testing and close monitoring by healthcare professionals are recommended for individuals with suspected or confirmed PJS.
Posted Jan 21, 2018 by Mari 1200
