Peutz-Jeghers syndrome overview: Difference between revisions
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Abdominal [[MRI]] scan may be helpful in the diagnosis of Peutz-Jeghers syndrome. Findings on MRI suggestive of Peutz-Jeghers syndrome include multiple [[polyps]] along the distribution of the [[gastrointestinal tract]]. | Abdominal [[MRI]] scan may be helpful in the diagnosis of Peutz-Jeghers syndrome. Findings on MRI suggestive of Peutz-Jeghers syndrome include multiple [[polyps]] along the distribution of the [[gastrointestinal tract]]. | ||
'''Abdominal Ultrasound''' | |||
Abdominal [[ultrasound]] may be helpful in the diagnosis of Peutz-Jeghers syndrome. Findings on abdominal ultrasound suggestive of Peutz-Jeghers syndrome include multiple [[polyps]] and small bowel distention. Abdominal ultrasound is also used to exclude [[pregnancy]] in young females with Peutz-Jeghers syndrome presenting with abdominal pain.<ref name="pmid6694866">{{cite journal| author=Walecki JK, Hales ED, Chung EB, Laster HD| title=Ultrasound contribution to diagnosis of Peutz-Jeghers syndrome. | journal=Pediatr Radiol | year= 1984 | volume= 14 | issue= 1 | pages= 62-4 | pmid=6694866 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6694866 }} </ref> | |||
== References == | == References == | ||
Revision as of 02:50, 16 September 2015
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]
Overview
Peutz-Jeghers, also known as Hereditary Intestinal Polyposis Syndrome, is an autosomal dominant genetic disorder characterized by the appearance of multiple benign hamartomatous polyps in the gastrointestinal tract, which increase the risk of cancer in the gastrointestinal tract. It's also associated with hyperpigmented macules on the lips and oral mucosa (melanosis). The incidence of Peutz–Jeghers syndrome is approximately 1 in 25,000 to 300,000 births.
Historical Perspective
In 1998, STK11 (LKB1) mutations were first identified in the pathogenesis of peutz-Jeghers syndrome. The syndrome is named after Jans Peutz (1886-1957), a Dutch physician and Harold Jeghers (1904-1990), an American physician who had successively described the association between polyposis and the mucocutaneous macules.
Pathophysiology
Peutz-Jeghers syndrome is transmitted in autosomal dominant pattern.
Causes
Peutz-Jeghers syndrome is caused by a mutation in the STK11 (LKB1) tumor suppressor gene.[1]
Differentiating Peutz-Jeghers Syndrome from other Diseases
Peutz-Jeghers syndrome must be differentiated from other diseases that cause hamartomatous polyps and mucocutaneous pigmentation, such as Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and juvenile polyposis.
Epidemiology and Demographics
The incidence of Peutz-Jeghers syndrome is approximately 0.03 to 4 per 100,000 individuals worldwide.
Risk Factors
Common risk factors in the development of Peutz-Jeghers syndrome are mutation in STK11 (LKB1) gene and family history of Peutz-Jeghers syndrome.
Screening
Screening for cancerous lesions by small intestine radiography, esophagogastroduodenoscopy (EGD), colonoscopy, pancreatic ultrasound, pelvic ultrasound, mammography, and Papanicolaou (Pap) test are recommended among patients with Peutz-Jeghers syndrome.
Natural History, Complications and Prognosis
If left untreated, patients with Peutz-Jeghers syndrome may progress to develop rectal bleeding, anemia, intussusception, bowel obstruction, and abdominal pain. Common complications of Peutz-Jeghers syndrome include colon cancer, and cachexia.[2] Prognosis is generally good if polypectomy was performed before any dysplastic degenerations take place.
Diagnostic Criteria
Peutz-Jeghers syndrome is diagnosed if the patient presented with two of the three major clinical criterions (family history, mucocutaneous pigmentation, and hamartomatous polyps)
History and Symptoms
Symptoms of Peutz-Jeghers syndrome include mucocutaneous hyperpigmentation, rectal bleeding, abdominal pain, and weight loss.
Physical Examination
Common physical examination findings of Peutz-Jeghers syndrome include mucocutaneous hyperpigmentation, abdominal tenderness due to intussusception, bowel obstruction, and pallor due to anemia.
Diagnostic Studies
Laboratory Findings
Some patients with Peutz-Jeghers syndrome may have positive stool guaiac and anemia, which is usually suggestive of colon cancer.
X-Ray
Chest x-ray maybe helpful in the detection of lung cancer in patients with Peutz-Jeghers syndrome.
Abdominal CT
Abdominal CT scan may be helpful in the diagnosis of Peutz-Jeghers syndrome. Findings on CT scan suggestive of Peutz-Jeghers syndrome include multiple polyps, intussusception, and bowel obstruction.
Abdominal MRI
Abdominal MRI scan may be helpful in the diagnosis of Peutz-Jeghers syndrome. Findings on MRI suggestive of Peutz-Jeghers syndrome include multiple polyps along the distribution of the gastrointestinal tract.
Abdominal Ultrasound
Abdominal ultrasound may be helpful in the diagnosis of Peutz-Jeghers syndrome. Findings on abdominal ultrasound suggestive of Peutz-Jeghers syndrome include multiple polyps and small bowel distention. Abdominal ultrasound is also used to exclude pregnancy in young females with Peutz-Jeghers syndrome presenting with abdominal pain.[3]
References
- ↑ JReferences Jenne DE, et al. 'Peutz-Jeghers Syndrome Is Caused By Mutations In A Novel Serine Threonine Kinase. - Pubmed - NCBI'. Ncbi.nlm.nih.gov. N.p., 2015. Web. 9 Sept. 2015..
- ↑ Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007 Sep. 4(9):492-502.
- ↑ Walecki JK, Hales ED, Chung EB, Laster HD (1984). "Ultrasound contribution to diagnosis of Peutz-Jeghers syndrome". Pediatr Radiol. 14 (1): 62–4. PMID 6694866.