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Peutz-Jeghers syndrome
PJS
Peutz-Jeghers syndrome (PJS) is a disorder in which growths called polyps form in the intestines. It is passed down through families (inherited). A person with PJS has a high risk of developing certain cancers.
Causes
It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 25,000 to 300,000 births.
There are 2 types of PJS:
-
Familial PJS may be due to a mutation in a gene called
STK11
. The genetic defect can be inherited through families as an
autosomal dominant
trait. That means if 1 of your parents has this type of PJS, you have a 50% chance of inheriting the gene and having the disease.
Autosomal dominant
Autosomal dominant is one of several ways that a trait or disorder can be passed down (inherited) through families. In an autosomal dominant disease,...
ImageRead Article Now Book Mark Article - Sporadic PJS is not passed down through families and appears unrelated to an STK11 gene mutation.
Symptoms
Symptoms of PJS are:
- Brownish or bluish-gray spots on the lips, gums, inner lining of the mouth, and skin
-
Clubbed fingers or toes
Clubbed fingers or toes
Clubbing is changes in the areas under and around the toenails and fingernails that occur with some disorders. The nails also show changes.
ImageRead Article Now Book Mark Article - Cramping pain in the belly area
- Dark freckles on and around the lips of a newborn
-
Blood in the stool
that can be seen with the naked eye (sometimes)
Blood in the stool
Bloody stools often are a sign of a problem in the digestive tract. Blood in the stool may come from anywhere along your digestive tract from your m...
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Exams and Tests
The polyps develop mainly in the small intestine, but also in the large intestine (colon). An exam of the colon called a colonoscopy will show colon polyps. The small intestine is evaluated in 2 ways. One is a barium x-ray (small bowel series). The other is a capsule endoscopy, in which a small camera is swallowed and then takes many pictures as it travels through the small intestine.
Additional exams may show:
-
Part of the intestine folded in on itself (
intussusception
)
Intussusception
Intussusception is the sliding of one part of the intestine into another. This article focuses on intussusception in children.
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Laboratory tests may include:
-
Complete blood count -- may reveal
anemia
Anemia
Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...
ImageRead Article Now Book Mark Article - Genetic testing
-
Stool guaiac
, to look for blood in stool
Stool guaiac
The stool guaiac test looks for hidden (occult) blood in a stool sample. It can find blood even if you cannot see it yourself. It is the most commo...
ImageRead Article Now Book Mark Article -
Total iron-binding capacity
(TIBC) -- may be linked with iron-deficiency anemia
Total iron-binding capacity
Total iron binding capacity (TIBC) is a blood test to see if you have too much or too little iron in your blood. Iron moves through the blood attach...
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Treatment
Surgery may be needed to remove polyps that cause long-term problems. Iron supplements help counteract blood loss.
People with this condition should be monitored by a health care provider and checked regularly for cancerous polyp changes.
Outlook (Prognosis)
There may be a high risk for these polyps becoming cancerous. Some studies link PJS with cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.
Possible Complications
Complications may include:
- Intussusception
- Polyps that lead to cancer
-
Ovarian cysts
Ovarian cysts
An ovarian cyst is a sac filled with fluid that forms on or inside an ovary. This article is about cysts that form during your monthly menstrual cycl...
ImageRead Article Now Book Mark Article - A type of ovarian tumors called sex cord tumors
When to Contact a Medical Professional
Call for an appointment with your provider if you or your baby has symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception.
Prevention
Genetic counseling is recommended if you are planning to have children and have a family history of this condition.
References
Donoghue LJ. Tumors of the digestive tract. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 345.
McGarrity TJ, Amos CI, Frazier ML, Wei C. Peutz-Jeghers syndrome. GeneReviews . Seattle, WA: University of Washington; 2013:7. www.ncbi.nlm.nih.gov/books/NBK1266/ Accessed October 27, 2015.
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Digestive system organs - illustration
The digestive system organs in the abdominal cavity include the liver, gallbladder, stomach, small intestine and large intestine.
Digestive system organs
illustration
Review Date: 10/27/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
