Description, Causes and Risk Factors:
Alternative Names: Jeghers-Peutz syndrome, Peutz syndrome, polyposis, hamartomatous intestinal polyps-and-spots syndrome.
Peutz-Jeghers syndrome is a rare condition that tends to run in families. About 1 in 50,000 to 300,000 persons will develop PJS.
It is caused by a mutation in the serine/threonine kinase 11 gene (STK11) on chromosome 19p, that increases the risk for developing colon and other cancers. People with PJS develop polyps in the GI tract.
Scientists are studying which gene mutations may cause PJS. Some people with PJS carry a mutation in a gene called STK11, also known as LKB1 (Liver kinase B1), which is located on chromosome 19. Usually, they get this mutated gene from one of their parents. People with PJS have a 50% chance of passing on the mutation to each of their children. Not all people with PJS have a family history of PJS. Some may be the ?rst in their family to get PJS, and are believed to have a new mutation. They, too, can pass this new PJS gene mutation on to their children.
Almost 50% of patients with PJS are susceptible of cancer. Most common cancers are gastroesophageal, small bowel, colorectal, and pancreatic.
Some common symptoms include:
Melanin spots (freckling).
Brownish or bluish-gray pigmented spots on the lips, gums, inner lining of the mouth, and skin.
Clubbed fingers or toes.
Early diagnosis of PJS is important for the prevention and/or early detection of cancer.The diagnosis of PJS is made if a person has polyps in the GI tract and at least two ofthe following: Polyps in the small bowel, melanin spots, and/or a family history of PJS, and blood test for STK11 gene.
There is a blood test available commercially that can find the mutated STK11 genecausing PJS in most patients. A genetic counselor can help to determine if gene testingis right for you and your family members.
Faecal occult blood tests.
Full blood count.
Diagnosis tests include:
X-rays of your small intestine to look for the cause of intestinal blockages such as tumors,strictures, in?ammation, and diseases of thesmall intestine.
As a genetic disease, there is no direct treatment for this syndrome. However, people diagnosed with PJS are strongly recommended to have surgical intervention. Surgery may be needed to remove polyps that cause long-term problems. Iron supplements help counteract blood loss. Persons with this condition should be monitored by a health care provider and be checked periodically for cancerous polyp changes.
Disclaimer:The above information is general information (informational purpose only, sometimes may not be accurate). The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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