Peutz-Jeghers syndrome (patient information): Difference between revisions

	Peutz-Jeghers syndrome
Overview
What are the symptoms?
What are the causes?
Who is at highest risk?
When to seek urgent medical care?
Diagnosis
Treatment options
Prevention
Where to find medical care for Peutz-Jeghers syndrome?
What to expect (Outlook/Prognosis)?
Possible complications
Prevention
Peutz-Jeghers syndrome On the Web
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Videos on Peutz-Jeghers syndrome
FDA on Peutz-Jeghers syndrome
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Latest revision as of 14:25, 21 December 2017

For the WikiDoc page for this topic, click here

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?

People with genetic mutations are at highest risk such as BRCA 1 or BRCA 2 mutations

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.

@@ Line 2: / Line 2: @@
 '''For the WikiDoc page for this topic, click [[Peutz-Jeghers syndrome|here]]'''
 {{Peutz-Jeghers syndrome (patient information)}}
+{{CMG}}; {{AE}} {{HQ}}
-{{CMG}}
 ==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]].
+==What are the symptoms of Peutz-Jeghers syndrome?==
-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.
+Symptoms of PJS are:
-==What are the symptoms of Peutz-Jeghers syndrome?==
+*Brownish or bluish-gray spots on the lips, gums, inner lining of the mouth, and skin
+*[[Clubbing|Clubbed fingers]] or toes
+*Cramping pain in the belly area
+*[[Freckles|Dark freckles]] on and around the lips of a newborn
+*[[Blood in the stool]] that can be seen with the naked eye (sometimes)
+*[[Vomiting (patient information)|Vomiting]]
-*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.
+==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:
+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.
-**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.
+==Who is at highest risk?==
-**Sporadic PJS is not passed down through families and appears unrelated to an STK11 gene mutation.
-==What causes Peutz-Jeghers syndrome?==
+*People with genetic mutations are at highest risk such as [[BRCA1|''BRCA 1'']] or [[BRCA2|''BRCA 2'']] mutations
-==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, fever and GI bleeding|abdominal pain]] may be a sign of an emergency condition such as intussusception.
 ==Diagnosis==
+*The [[Polyp|polyps]] develop mainly in the small intestine, but also in the [[Colon|large intestine (colon)]].
+*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:
+*Part of the intestine folded in on itself ([[Intussusception (patient information)|intussusception]])
+*Benign (noncancerous) tumors in the ear
+Laboratory tests may include:
+*[[Complete blood count]] -- may reveal [[anemia]]
+*[[Genetic testing]]
+*[[Stool guaiac test|Stool guaiac]], to look for blood in stool
+*[[Total iron-binding capacity]] (TIBC) -- may be linked with [[Iron deficiency anemia|iron-deficiency anemia]]
 ==Treatment options==
+*[[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.
 ==Where to find medical care for Peutz-Jeghers syndrome?==
 [http://maps.google.com/maps?q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|map+top+hospital+Peutz-Jeghers syndrome}}}}&oe=utf-8&rls=org.mozilla:en-US:official&client=firefox-a&um=1&ie=UTF-8&sa=N&hl=en&tab=wl Directions to Hospitals Treating Peutz-Jeghers syndrome]
 ==What to expect (Outlook/Prognosis)?==
+*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 [[Ovary|ovaries]].
 ==Possible complications==
+Complications may include:
+*[[Intussusception]]
+*[[Polyp|Polyps]] that lead to cancer
+*[[Ovarian cyst|Ovarian cysts]]
+*A type of [[Ovarian cancer|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.
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 [[Category:Oncology]]