Peutz-Jeghers Syndrome

The Peutz Jeghers syndrome , often referred to as the PJS is an infection that is often inherited through a family lineage. It is a condition in which an individual develop Intestinal Polyps and the individual’s chances of developing some forms of cancers are increased. It is believed that around 1 out of every 25,000 to 350,000 individuals are affected by the PJS at birth . PJS is caused by a mutation in some certain genes  and this genetic alterations are passed down through a family lineage as an autosomal dominant trait{ for instance the chances of getting such syndrome if any of your parents have it is ration 50:50. It is important to note that sporadic PJS are not passed through family lineages.

There are several notable symptoms of the Peutz Jeghers syndrome. Clubbed fingers or toes are some of the earliest signs that an individual is suffering from the PJS. The appearance of Bluish-gray or brownish pigmented spots may also appear especially in places like ; the inner lining of the mouth, lips, gums and of course the external parts of the skin surfaces.  In some cases, some people who suffer from this infection often notice some cramping pain sensations at the lower parts of their belly.  In some new borns, some of the first noticeable signs of PHS is the formation of dark freckles on and around the lips, and in so many blood could be easily noticed in the stool of those who suffer from the infection while some will start to vomit.

The polyps which developed at the onset of the PHS infection often develop in the small intestine, and sometimes in the colon, hence colonoscopy which is one of the first diagnostic ways of detecting the infection will reveal the formation of such polyps in the colon. The development of the polyps in the small intestine is often detected with use of Barium X-rays. Multiple pictures of the polyps are often taken as they move through the bowels. Several laboratory tests are conducted to confirm the PHS in the body and such include; Genetic testing, general blood count,  Total Iron binding capacity, and Stool Guaiac.

A combination of some therapies can be used in treating the Peutz Jeghers syndrome. Surgical removal of the polyps from the small intestine alongside giving the patient some Iron supplements to make up for the blood loss is very ideal and effective.