Peutz-Jeghers syndrome (patient information): Difference between revisions
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'''For the WikiDoc page for this topic, click [[Peutz-Jeghers syndrome|here]]''' | '''For the WikiDoc page for this topic, click [[Peutz-Jeghers syndrome|here]]''' | ||
{{Peutz-Jeghers syndrome (patient information)}} | {{Peutz-Jeghers syndrome (patient information)}} | ||
{{CMG}}; {{AE}} {{HQ}} | |||
{{CMG}} | |||
==Overview== | ==Overview== | ||
Peutz-Jeghers syndrome (PJS) is a disorder in which growths called [[Polyp|polyps]] form in the [[Intestine|intestines]]. It is passed down through families (inherited). A person with PJS has a high risk of developing certain [[Cancer|cancers]]. | |||
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. | |||
==What are the symptoms of Peutz-Jeghers syndrome?== | ==What are the symptoms of Peutz-Jeghers syndrome?== | ||
Symptoms of PJS are: | Symptoms of PJS are: | ||
*Brownish or bluish-gray spots on the lips, gums, inner lining of the mouth, and skin | *Brownish or bluish-gray spots on the lips, gums, inner lining of the mouth, and skin | ||
*Clubbed fingers or toes | *[[Clubbing|Clubbed fingers]] or toes | ||
*Cramping pain in the belly area | *Cramping pain in the belly area | ||
*Dark freckles on and around the lips of a newborn | *[[Freckles|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]] that can be seen with the naked eye (sometimes) | ||
*Vomiting | *[[Vomiting (patient information)|Vomiting]] | ||
==What causes Peutz-Jeghers syndrome?== | ==What causes Peutz-Jeghers syndrome?== | ||
*It is | *It is not known how many people are affected by PJS. | ||
*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|''STK11''.]] | |||
**The genetic defect can be inherited through families as an [[Dominance relationship|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. | |||
*Sporadic PJS is not passed down through families and appears unrelated to an [[STK11|''STK11'']] gene mutation. | |||
==Who is at highest risk?== | ==Who is at highest risk?== | ||
*People with genetic mutations are at highest risk such as [[BRCA1|''BRCA 1'']] or [[BRCA2|''BRCA 2'']] mutations | |||
==When to seek urgent medical care?== | ==When to seek urgent medical care?== | ||
*Call for an appointment with your provider if you or your baby has symptoms of this condition. | *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. | *Severe [[Abdominal pain, fever and GI bleeding|abdominal pain]] may be a sign of an emergency condition such as intussusception. | ||
==Diagnosis== | ==Diagnosis== | ||
*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 [[Polyp|polyps]] develop mainly in the small intestine, but also in the [[Colon|large intestine (colon)]]. | ||
*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. | *An exam of the colon called a [[colonoscopy]] will show colon [[Polyp|polyps]]. | ||
*The [[small intestine]] is evaluated in 2 ways. One is a [[Barium|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: | Additional exams may show: | ||
*Part of the intestine folded in on itself (intussusception) | *Part of the intestine folded in on itself ([[Intussusception (patient information)|intussusception]]) | ||
*Benign (noncancerous) tumors in the ear | *Benign (noncancerous) tumors in the ear | ||
Laboratory tests may include: | Laboratory tests may include: | ||
*Complete blood count -- may reveal anemia | *[[Complete blood count]] -- may reveal [[anemia]] | ||
*Genetic testing | *[[Genetic testing]] | ||
*Stool guaiac, to look for blood in stool | *[[Stool guaiac test|Stool guaiac]], to look for blood in stool | ||
*Total iron-binding capacity (TIBC) -- may be linked with iron-deficiency anemia | *[[Total iron-binding capacity]] (TIBC) -- may be linked with [[Iron deficiency anemia|iron-deficiency anemia]] | ||
==Treatment options== | ==Treatment options== | ||
*Surgery may be needed to remove polyps that cause long-term problems. Iron supplements help counteract blood loss. | *[[Surgery]] may be needed to remove [[Polyp|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. | *People with this condition should be monitored by a health care provider and checked regularly for cancerous [[polyp]] changes. | ||
==Where to find medical care for Peutz-Jeghers syndrome?== | ==Where to find medical care for Peutz-Jeghers syndrome?== | ||
| Line 61: | Line 66: | ||
==What to expect (Outlook/Prognosis)?== | ==What to expect (Outlook/Prognosis)?== | ||
*There may be a high risk for these polyps becoming cancerous. | *There may be a high risk for these [[Polyp|polyps]] becoming cancerous. | ||
*Some studies link PJS with cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries. | *Some studies link PJS with cancers of the [[gastrointestinal tract]], [[lung]], [[breast]], [[uterus]], and [[Ovary|ovaries]]. | ||
==Possible complications== | ==Possible complications== | ||
Complications may include: | Complications may include: | ||
*Intussusception | *[[Intussusception]] | ||
*Polyps that lead to cancer | *[[Polyp|Polyps]] that lead to cancer | ||
*Ovarian cysts | *[[Ovarian cyst|Ovarian cysts]] | ||
*A type of ovarian tumors called sex cord tumors | *A type of [[Ovarian cancer|ovarian tumors]] called [[sex cord]] tumors | ||
==Sources== | ==Sources== | ||
| Line 76: | Line 81: | ||
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. | 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. | ||
[[Category:Up-To-Date]] | [[Category:Up-To-Date]] | ||
Latest revision as of 14:25, 21 December 2017
For the WikiDoc page for this topic, click here
|
Peutz-Jeghers syndrome |
|
Peutz-Jeghers syndrome On the Web |
|---|
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Risk calculators and risk factors for Peutz-Jeghers syndrome |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]
Overview
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.
What are the symptoms of Peutz-Jeghers syndrome?
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 newborn
- Blood in the stool that can be seen with the naked eye (sometimes)
- Vomiting
What causes Peutz-Jeghers syndrome?
- It is not known how many people are affected by PJS.
- 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.
- Sporadic PJS is not passed down through families and appears unrelated to an STK11 gene mutation.
Who is at highest risk?
When to seek urgent medical care?
- 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.
Diagnosis
- 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)
- Benign (noncancerous) tumors in the ear
Laboratory tests may include:
- Complete blood count -- 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 options
- 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.
Where to find medical care for Peutz-Jeghers syndrome?
Directions to Hospitals Treating Peutz-Jeghers syndrome
What to expect (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
Sources
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.