Peutz-Jeghers Syndrome: An outline on Diagnosis and Management

Peutz-Jeghers Syndrome (PJS) is a rare inherited autosomal dominant disorder characterized by pigmented mucocutaneous melanotic macules and hamartomatous polyps. PJS arises due to mutations in STK11 gene located on chromosome 19q 13.3 and predisposes the patients to a multitude of malignancies with an estimated cumulative risk of 81% - 93%. Breast, gastrointestinal tract, pancreas, reproductive system and lung are common sites of development of malignancies in these patients. Anemia, rectal bleeding, abdominal pain, obstruction and intussusception are the usual complications in patients with PJS leading to multiple interventions. Upper GI endoscopy and Double Balloon Enteroscopy (DBE) allows screening of the gastrointestinal tract. Polypectomy of hamartomas more than 1 cm carried out at the time of surveillance endoscopy, abates the complications like bleeding, obstruction and intussusception. When DBE is not feasible, intraoperative endoscopy (IOE) is helpful to evaluate the entire gastrointestinal tract during surgery. IOE is also crucial for removal of all small intestinal polyps. Imaging techniques like magnetic resonance enterography and computed tomography enterography and video capsule endoscopy are non-invasive options for evaluation and screening in these patients. Sixty eight percent of the patients require emergency surgery during their lifetime. Regular cancer screening protocols should be instituted for early detection of malignancies. Genetic counseling and screening of other first degree family members helps in their preemptive identification and management. Chemoprevention using mTOR inhibitors, COX-2 inhibitors could be helpful in polyp reduction.

Comparison of diagnosis value of double-balloon endoscopy and single-balloon endoscopy in diagnosing small intestinal diseases / 中国内镜杂志

Objective To compare the diagnosis value of double-balloon endoscopy (DBE) and single-balloon endoscopy (SBE) in diagnosing small intestinal diseases. Methods 117 cases with suspected small intestinal diseases from Jul 2014 to Aug 2016 were divided into DBE group (n = 68) and SBE group (n = 49) according to the treatment methods. These indexes as followed were compared between the two groups: procedure duration, intubation depth, detection rate, endoscopic treatment rate, and the detection rates in different chief complaints and diseases. The safety assessment was analyzed. Results Through the mouth and the anus examinations, DBE and SBE groups produced no significant differences in procedure duration, intubation depth, detection rate, and endoscopic treatment rate (P > 0.05). The unknown causes gastrointestinal bleeding, abdominal pain, diarrhea and other detection rate of small intestine disease compare differences had no statistical significance (P > 0.05), none in crohn's disease, malignant tumor, benign tumor, small enteritis, ulcers, polyps, diverticulum and tuberculosis (P > 0.05). There were no serious complications occurred in both groups. Conclusion DBE and SBE have the similar detection rate of small intestine diseases.

Analysis of double-balloon endoscopy in diagnosis of small bowel diseases (344 cases) / 中国内镜杂志

Objective To study the clinical value of double balloon endoscopy (DBE) in diagnosis and treatment of intestinal diseases. Methods Clinical data of 344 patients suspected of small bowel lesions from March 2006 to April 2014 was retrospectively analyzed. All the patients clinical manifestations including varying degrees of abdominal pain, bloating, nause and vomiting, diarrhea. The 344 patients underwent DBE for 397 times. Results The incidence of adverse reactions in checking was only 4.53%, and there was no complications occurred after checking. Positive results shown in 214 cases by DBE, the other 130 patients shown negative results. While 28 of the other 130 patients were found small bowel lesions by capsule endoscopy and CT scans, the remaining 102 cases had no obvious abnormalities. The misdiagnosis rate of DBE was 8.13%, and mainly focuses on polyps and vascular malformation. 242 of the 344 patients were diagnosed with intestinal diseases, and mostly of them were tumor, ulcers and polyps. The detect rate of DBE examination for tumor and ulcer diseases was greater than that of small intestinal polyposis, the difference was statistically significant (P < 0.05). Conclusion DBE in diagnosis and treatment of intestinal diseases is a relatively safe and effective way. It is worthy being popularized and applied.

Double-Balloon Endoscopy in Overt and Occult Small Bowel Bleeding: Results, Complications, and Correlation with Prior Videocapsule Endoscopy in a Tertiary Referral Center

BACKGROUND/AIMS: Videocapsule endoscopy (VCE) and double-balloon endoscopy (DBE) allow deep exploration in patients with suspected small bowel pathology. VCE is often performed as an initial small bowel examination to explore whether an intervention by DBE is indicated and to determine insertion route. The study aim was to evaluate the correlation between DBE and VCE in patients with obscure or overt bleeding or anemia, as well as intervention frequency, and complications. METHODS: Retrospective observational study. RESULTS: DBE procedures (n=205) showed small bowel lesions in 64% cases. Antegrade DBE showed positive results in 79% cases, mostly angiodysplasias (63%). Retrograde DBE showed positive results in 22% cases. An intervention was performed in 64% of DBE procedures. The major complication rate was 0.5%, which was one case of perforation. Pancreatitis did not occur. The overall diagnostic agreement was 66% among the 134 DBEs with preceded VCE. CONCLUSIONS: In cases of overt or occult bleeding or anemia, DBE was positive in 64%, with only a few complications. Positive correlation was 66% among initially performed VCEs and DBEs. Owing to the time-consuming and invasive character of DBE, performing VCE before DBE might still be clinically relevant.

A Case of Ileal Mucosa-associated Lymphoid Tissue Lymphoma Accompanied by Luminal Stricture and Arterial Spurting / 대한소화기학회지

Primary small intestinal lymphoma is relatively uncommon. Small bowel tumors are difficult to diagnose, because they are usually asymptomatic in the initial phase, and they are not easily detected by traditional methods of investigating the small intestine. This case shows a successfully detected and treated gastrointestinal bleeding from rare ileal mucosa-associated lymphoid tissue lymphoma, using double balloon endoscopy.

Diagnostic value of double balloon endoscopy for gastrointestinal disease / 中华消化内镜杂志

ObjectiveTo study the diagnostic value of double balloon endoscopy (DBE) for gastrointestinal disease.MethodsClinical data of 53 patients with suspected intermediate gastrointestinal diseases who underwent DBE procedures were retrospectively analyzed for detection rate,complications and the incidence of adverse reactions.ResultsAll of 53 patients underwent successful DBE,Procedures were performed via mouth ( n =26),anus ( n =9 ) and the combined routes ( n =18 ).And definite diagnosis was made in 46 cases (86.79％),including upper gastrointestinal (above ligament of Treitz) disease in 3 cases (5.66％),intermediate gastrointestinal disease in 41 cases (77.36％ ) and lower gastrointestinal disease in 2 cases (3.77％).All 53 patients were tolerant to the operation and anesthesia.No severe complications like bleeding,perforation,intestinal torsion,mesenteric tear,pancreatitis or anesthetic accident occured.Several patients showed abdominal flatulence,transient abdominal pain.Some patients in oral route reported slight throat discomfort or slight nasal bleeding.Incarceration occurred in 1 case due to friction of endotracheal intubation and the silicone tube,which was released after deflation and removed out.2 patients showed mild diarrhea with low fever,and the symptoms were self-healing without special treatment in 48 h.ConclusionDBE is of high diagnostic value for gastrointestinal diseases with a high safety.

Diagnostic value of double-balloon enteroscopy for small bowel Crohn disease / 中华消化内镜杂志

ObjectiveTo investigate the value of double-balloon endoscopy for the diagnosis of small bowel Crohn disease(CD).MethodsData of 141 patients with suspected CD undergoing double-balloon endoscopy were reviewed.Diagnosis was made based on pathological,endoscopic findings and clinic follow-up results.Detection rates and diagnosis rates of small bowel CD were compared by double-balloon enteroscopy,CT enterography and capsule endoscopy.ResultsThe detection and diagnosis rates of small bowel CD by double-balloon endoscopy were 90.8％ ( 128/141 ) and 98.4％ ( 126/128),respectively.These two variables by CT enterography were 76.0％ (19/25) and 89.5％ (17/19),and those by capsule endoscopy were 60.0％ (15/25) and 93.3％ (14/15).ConclusionDouble balloon enteroscopy has high application value for the diagnosis of small bowel CD.For those contraindicated with endoscopy,CT enterography can be considered as a preferred auxiliary diagnostic modality.