Peutz-Jeghers syndrome: Difference between revisions
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==[[Peutz-Jeghers syndrome history and symptoms|History & Symptoms]]== | ==[[Peutz-Jeghers syndrome history and symptoms|History & Symptoms]]== | ||
==[[Peutz-Jeghers syndrome natural history, complications, and prognosis|Natural history, Complications, and Prognosis]]== | ==[[Peutz-Jeghers syndrome natural history, complications, and prognosis|Natural history, Complications, and Prognosis]]== | ||
Revision as of 22:16, 20 January 2012
| Peutz-Jeghers syndrome | |
 | |
|---|---|
| ICD-10 | Q85.8 |
| ICD-9 | 759.6 |
| OMIM | 175200 |
| DiseasesDB | 9905 |
| MeSH | D010580 |
For patient information click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Diagnosis
Causes of Peutz-Jeghers syndrome
Genetics
In 1998, a gene was found to be associated with the mutation. On chromosome 19, the gene known as STK11 (LKB1)[1] is a possible tumor suppressor gene. It is inherited in an Autosomal Dominant pattern (see Mendelian inheritance) which means that anyone who has PJS has a 50% chance of passing it onto their children.
History & Symptoms
Natural history, Complications, and Prognosis
Almost half of Peutz-Jeghers patients die from cancer by age 57 years, and the cumulative risk of developing a form of cancer associated with Peutz-Jeghers syndrome between ages 15-64 is 93%.[2]
Screening
Screening includes upper GI endoscopy, enteroclysis, and colonoscopy to check for the locations of the hamartomas. To check for cancerous lesions, endoscopic ultrasound, testicular ultrasound and imaging studies of the liver and the pancreas are indicated because of the risk of pancreatic cancer as well as gallbladder polyps and cancer. These imaging studies may include ultrasonography as well as CT with pancreatic details or magnetic resonance cholangiopancreatography (MRCP).
In addition, an annual physical examination that includes evaluation of the breasts, abdomen, pelvis, and testes should be done by a physician. An annual complete blood count to check for anemia should be done. If bleeding is found, removal of hemorrhagic or large polyps (>5 mm) by endoscopic polypectomy should be performed.
Some suggestions for surveillance for cancer include the following: Small intestine with small bowel radiography every 2 years, Esophagogastroduodenoscopy and colonoscopy every 2 years, Ultrasound of the pancreas yearly, Ultrasound of the pelvis (women) and testes (men) yearly, Mammography (women) at ages 25, 30, 35, and 38 years, then every 2 years until age 50 years, then annually, and Papanicolaou (Pap) test every year
Follow-up care should be supervised by a gastroenterologist familiar with Peutz-Jeghers syndrome. Genetic consultation and counseling as well as urological and gynecological consultations are required in the management of these patients.
References
- ↑ "UniProtKB/Swiss-Prot entry Q15831 [STK11_HUMAN] Serine/threonine-protein kinase 11". Retrieved 2007-07-21.
- ↑ "eMedicine - Peutz-Jeghers Syndrome : Article by Andrea Duchini, MD". Retrieved 2007-07-21.
Template:Digestive system neoplasia
de:Peutz-Jeghers-Syndrom
it:Sindrome di Peutz-Jeghers
nl:Syndroom van Peutz-Jeghers