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Peutz-Jeghers syndrome

PJS

Peutz-Jeghers syndrome (PJS) is a rare disorder in which growths called polyps form in the intestines. 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.

PJS is caused by a mutation in the gene called STK11 (previously known as LKB1). There are two ways that PJS can be inherited:

  • Familial PJS is inherited through families as an autosomal dominant trait. That means if one of your parents has this type of PJS, you have a 50% chance of inheriting the gene and having the disease.
  • Spontaneous PJS is not inherited from a parent. The gene mutation occurs on its own. Once someone carries the genetic change, their children have a 50% chance of inheriting it.

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
  • Cramping pain in the belly area
  • Dark freckles on and around the lips of a child
  • Blood in the stool that can be seen with the naked eye (sometimes)
  • Vomiting

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 two 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)
  • Benign (noncancerous) tumors in the nose, airways, ureters, or bladder

Laboratory tests may include:

  • Complete blood count (CBC) -- may reveal anemia
  • Genetic testing
  • Stool guaiac, to look for blood in stool
  • Total iron-binding capacity (TIBC) -- may be linked with iron-deficiency anemia

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.

Support Groups

The following resources can provide more information on PJS:

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
  • 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 child 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

McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington. www.ncbi.nlm.nih.gov/books/NBK1266. Updated July 14, 2016. Accessed November 5, 2019.

Wendel D, Murray KF. Tumors of the digestive tract. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 372.

  • Colon cancer screening

    Animation

  •  

    Colon cancer screening - Animation

    Colon cancer is one of the leading causes of cancer-related deaths in the United States. The good news is that early diagnosis through preventive screening often leads to a complete cure. Colorectal cancer starts in the large intestine, also known as the colon. Nearly all colon cancers begin as noncancerous, or benign, polyps, which slowly develop into cancer. Screening can detect these polyps and early cancers. The great thing is that we can remove polyps years before cancer even has a chance to develop! Your doctor can use several tools to screen for cancer. The first step is a stool test. This test checks your bowel movements for blood that you may not even be able to see in your stool. Polyps in the colon and small cancers can bleed tiny amounts of blood that you can't see with the naked eye. The most common method is called the fecal occult blood test. A second method is called a sigmoidoscopy exam. This test uses a flexible scope to look at the lower portion of your colon. But, because it looks only at the last one-third of the large intestine, it may miss some cancers. That's why this test is usually done along with a stool test. A colonoscopy is similar to sigmoidoscopy, but it can see the entire colon. That's why we usually do colonoscopies over sigmoidoscopies nowadays. You'll usually be mildly sedated during this test. Occasionally, your doctor may recommend, as an alternative, a double-contrast barium enema--which is a special x-ray of the large intestine, or a virtual colonoscopy, which uses a CAT scan and computer software to create a 3-D image of your large intestine. So, who should be screened for colon cancer? Well, beginning at age 50, men and women should have a screening test. People with an average risk of colon cancer should have a colonoscopy every 10 years, a double-contrast barium enema every 5 years, or a fecal occult blood test every year. Additional options are sigmoidoscopy every 5 to 10 years. People with certain risk factors for colon cancer may need screening before age 50, or more frequent testing. Such people include those with a family history of colon cancer, African-Americans, those with a history of previous colon cancer or polyps, or folks with a history of ulcerative colitis or Crohn's disease, which are both chronic inflammatory bowel diseases. The death rate for colon cancer has dropped in the past 15 years and this may be due to increased awareness and colon screening. In general, early diagnosis can lead to a complete cure.

  • Digestive system organs

    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

  • Colon cancer screening

    Animation

  •  

    Colon cancer screening - Animation

    Colon cancer is one of the leading causes of cancer-related deaths in the United States. The good news is that early diagnosis through preventive screening often leads to a complete cure. Colorectal cancer starts in the large intestine, also known as the colon. Nearly all colon cancers begin as noncancerous, or benign, polyps, which slowly develop into cancer. Screening can detect these polyps and early cancers. The great thing is that we can remove polyps years before cancer even has a chance to develop! Your doctor can use several tools to screen for cancer. The first step is a stool test. This test checks your bowel movements for blood that you may not even be able to see in your stool. Polyps in the colon and small cancers can bleed tiny amounts of blood that you can't see with the naked eye. The most common method is called the fecal occult blood test. A second method is called a sigmoidoscopy exam. This test uses a flexible scope to look at the lower portion of your colon. But, because it looks only at the last one-third of the large intestine, it may miss some cancers. That's why this test is usually done along with a stool test. A colonoscopy is similar to sigmoidoscopy, but it can see the entire colon. That's why we usually do colonoscopies over sigmoidoscopies nowadays. You'll usually be mildly sedated during this test. Occasionally, your doctor may recommend, as an alternative, a double-contrast barium enema--which is a special x-ray of the large intestine, or a virtual colonoscopy, which uses a CAT scan and computer software to create a 3-D image of your large intestine. So, who should be screened for colon cancer? Well, beginning at age 50, men and women should have a screening test. People with an average risk of colon cancer should have a colonoscopy every 10 years, a double-contrast barium enema every 5 years, or a fecal occult blood test every year. Additional options are sigmoidoscopy every 5 to 10 years. People with certain risk factors for colon cancer may need screening before age 50, or more frequent testing. Such people include those with a family history of colon cancer, African-Americans, those with a history of previous colon cancer or polyps, or folks with a history of ulcerative colitis or Crohn's disease, which are both chronic inflammatory bowel diseases. The death rate for colon cancer has dropped in the past 15 years and this may be due to increased awareness and colon screening. In general, early diagnosis can lead to a complete cure.

  • Digestive system organs

    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: 10/3/2019

Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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