Clinical Characteristics Of Patiens With Peutz-Jeghers Syndrome

BackgroundPeutz-Jeghers syndrome(PJS),also known as familial mucocutaneous pigmentation gastrointestinal polyposis,has a prevalence of 1/200000-1/8000.It was first described by Peutz in 1921 and was introduced in 1949 in detail and systematically by Jeghers,so the condition was called Peutz Jeghers syndrome.Peutz-Jeghers syndrome is characterized by hyperpigmentation of the face,lips,oral mucosa,and bilateral palms,fingers,tissues,and soles,and is accompanied by multiple gastrointestinal polyps,which are mostly hamartoma like polyps.Multiple polyps in the gastrointestinal tract can lead to acute or chronic abdominal pain,intussusception,intestinal obstruction,gastrointestinal bleeding,anemia and a tendency to carcinogenesis.PJS is an autosomal dominant condition with equal incidence in men and women.It can occur at any age and is more common in children and adolescents.Polyps can occur anywhere from the stomach to the rectum and are most common in the small bowel(duodenum,jejunum and ileum).It also causes trouble for the examination and treatment of patients.Conventional gastroscopy can only examine and treat lesions from the esophagus to the bulb and descending part of the duodenum,and colonoscopy can only examine and treat lesions from the anus to the terminal ileum 10 to 20 cm from the ileocecal valve.The small intestine,located in the middle of the digestive tract,becomes a blind area for examination and treatment.The adult human small intestine spans approximately 5-7 m and is the longest segment of the human digestive tract.It is also an important site for digestion and absorption.The small intestine is tortuous,which can be called "nine twists and eighteen turns",and has a large range of activity.It is difficult to diagnose and treat deep small bowel diseases by traditional examination methods.In the past,most patients with Peutz-Jeghers syndrome needed traditional surgical treatment to remove small intestinal polyps.Traditional surgical treatment has some defects,such as severe trauma,repeated surgical treatment and so on.Later,with the appearance of balloon assisted enteroscopy(BAE),it brought hope to the patients with black spot polyp syndrome.Patients can undergo resection of small intestinal polyps without the need for surgical intervention with major trauma,high risk factor,and long recovery time.Balloon assisted enteroscopy is divided into double balloon enteroscopy(DBE)and single balloon enteroscopy(SBE).BAE is a reliable method for the diagnosis and treatment of small intestinal polyps.Enteroscopy can make some endoscopic treatment according to the observed small intestinal polyps.The application of DAE in the resection of small intestinal polyps can reduce the pain and burden of surgical treatment.At present,DAE has been used in the treatment of PJs with good safety.There are few retrospective studies on Peutz-Jeghers syndrome.ObjectivesThe purpose of this study is to describe the clinical characteristics and endoscopic treatment of PJS patients,and compare the differences between patients with and without family history,so as to provide help for improving the diagnosis,differential diagnosis and treatment of Peutz-Jeghers syndrome.Research objects and MethodsA total of 56 patients with PJS who were treated and treated in Qilu Hospital of Shandong University from January 1,2012 to December 31,2019,were selected to collect the general conditions,clinical manifestations,family history,laboratory examinations,and imaging examinations of the patients,Endoscopy(gastrointestinal endoscopy,enteroscopy)examination and treatment,surgical treatment,pathological biopsy and other data,retrospective summary analysis.Results1.In the study we include 56 patients,there are 34 males and 22 females.The average age of their first admission was 27.41±11.9 and they were admitted to the hospital 87 times.Twenty patients had a family history of Peutz-Jeghers syndrome.The first symptom of PJS was abdominal pain which was most common in 29 cases,others were pigmentation,intussusception,hematochezia,abdominal distension,perianal excrement and diarrhea in that order.55 patients had hyperpigmentation.The most common site of distribution is the lips,followed in order by the upper limbs,the lower limbs and the cyanofacial face.2.Among 87 hospitalized patients,53 patients underwent enteroscopy,60 times in total.A total of 813 polyps were resected,including 91 gastric polyps,664 small intestine polyps and 79 large intestine polyps.One patient developed intestinal perforation during enteroscopy and was transferred to surgery for surgical treatment.The patient recovered well after operation.3.Among 56 patients,43 patients were sent for pathological biopsy,and the main pathological type of polyps was hamartomatous polyps.4.Among 56 patients,17 patients underwent surgical treatment.All patients recovered well without complications.5.Compared with patients without family history,abdominal pain symptoms were more common in patients without family history(p=0.003).In terms of laboratory examination,the positive rate of fecal occult blood test in patients without family history was significantly higher than that in patients with family history(p=0.007).In terms of imaging,soft tissue masses are more common in patients without family history(p=0.007).In addition,the number of gastric and small intestinal polyps resected by enteroscopy in patients without family history was significantly more than that in patients with family history(p=0.024、p=0.010).Conclusion1.The management of GI polyps by small bowel endoscopy in patients with PJSis safe and effective.Treatment with enteroscopy is able to reduce the odds of surgical intervention and decrease the burden on the patient.2.Most PJs patients present to the hospital with gastrointestinal symptoms,mainly abdominal pain,intussusception,ileus,hematochezia,and abdominal distension.Some patients were also referred because of mucocutaneous pigmentation.Clinicians should also pay attention to previous medical and family history during patient visits.3.The number of polyps and abdominal pain in patients without family history were more than those with family history,so more attention should be paid to the process of diagnosis and treatment.4.Although there are no specific guidelines for follow-up surveillance for PJS at present,it should be emphasized by clinicians that It is necessary for PJS patients to have regular imaging examination or endoscopy.