Familial Adenomatous Polyposis Coli in East Africa: A Case Report and Review of the Literature

Introduction: Familial adenomatous polyposis (FAP) is a rare diagnosis in East Africa. The author reports a case of a 21 year old gentleman presenting with occasional passage of blood stained stool, and found to have familial adenomatous polyposis coli. This is followed by a literature review on the pathogenesis, clinical features and treatment options of FAP in East Africa. Presentation of Case: This patient presented with a strong family history of familial adenomatous polyposis, blood stained stool and a rectal mass. A total proctocolectomy and ileoanal anastomosis was carried out. The postoperative course of this patient was uneventful. Discussion: The typical gross pathological and histological features of familial adenomatous polyposis and rectal adenocarcinoma were seen on the resected colorectal specimen. In addition this study reviews the literature regarding the clinical presentation, pathological characteristics and treatment options of familial adenomatous polyposis coli. Conclusion: FAP should always be considered in a young patient presenting with a strong family history of CRC. Colonoscopy should be performed on these patients with early symptoms and those patients with a strong family history of FAP. In East Africa, the creation of a permanent stoma is unacceptable and therefore a proctocolectomy and Brooke ileostomy will not be a desirable option in a young patient in this part of the world.

Gastrointestinal polyposis

This chapter discusses the gastrointestinal polyposis syndromes that can present in childhood. This includes juvenile polyps, juvenile polyposis, Peutz–Jeghers syndrome, Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, familial adenomatous polyposis coli, Gardener syndrome, Turcot syndrome, hyperplastic polyps, and inflammatory polyps.

Per Rectal Bleeding in Children: Experiences in the Department of Paediatric Surgery in BSMMU

Per rectal bleeding is a frequently encountered clinical complaint in routine medical/surgical practice in paediatric patients. It has different aetiology in both extremes of age. This study was carried out in an attempt to find out causes, presentation and the proper management that can be offered to the affected infants and children.This retrospective study was carried out from January 2012 to December 2014 in the department of Paediatric Surgery of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh. All patients presenting with the complaint of per rectal bleeding were included. But patients who needed emergency surgical intervention were excluded from this study. The data were reviewed for gender, age, causes of rectal bleeding and type, number, site, recurrence rate and the modality of treatment employed in children having colorectal polyp. Technetium-labeled red blood cells scans was used for the diagnosis of Meckel's Diverticulum. Complete blood picture and routine stool examination were done for all cases.Most polyp cases were diagnosed with digital rectal examination (DRE). Colonoscopy was performed for some cases in the Paediatric Gastroenterology Department of BSMMU. Also all the rectal polyps and colonic mucosal biopsies taken during colonoscopy submitted to histopathological examination. Per rectal bleeding was the chief complaint in 326 (1.5%) patients Out of 21,533 patients presenting to the outpatient department of Paediatric Surgery of BSMMU, Dhaka, Bangladesh over a period of three years. In this study, it was reviewed 326 patients, among them 208 (63.89%) were boys and 118 (36.19%) were girls. The male female ratio was 1.8:1. The ages ranged from 14 months to 14 years (mean age: 5.8years) at diagnosis. The most common aetiology was juvenile polyps which were found in 209 (64.11%) of the cases. It was to be found that anal fissure in 33 (10.12%) patients, rectal prolapse in 27 (8.2%) patients, non-specific colitis in 15 (4.60%) patients, Meckel's Diverticulitis in 3 (0.9%) patients, juvenile polyposis coli in 5 (1.5%) patients and familial adenomatous polyposis coli (FAP) in 4 (1.2%) patients. However, the cause of per rectal bleeding remained unknown suspecting chronic constipation in 30 (9.20%) patients. No statistically significant differences were observed between males and females as well as different age groups regarding the means of the underlying causes of per rectal bleeding in children(p > 0.05). The prevalence of anal fissure in less than 2 years old patients and juvenile polyps in the 2-6 years old patients were significantly higher than the other causes (p < 0.001). Other causes of per rectal bleeding prevailed in children were more than 2 years old. Colorectal polyps are common causes of per rectal bleeding in children. Proper physical examination including DRE along with the colonoscopy promotes both rapid and accurate diagnosis and the opportunity for immediate therapeutic measures.

The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF), Beta Thalassemia (BT), Fragile X Syndrome (FX), and Familial Adenomatous Polyposis Coli (APC). Since 2009 this activity is an institutional activity and participation is open to both public and private laboratories. Seven rounds have been performed until now and the eighth is in progress. Laboratories receive 4 DNA samples with mock clinical indications. They analyze the samples using their routine procedures. A panel of assessors review the raw data and the reports; all data are managed through a web utility. In 2010 the number of participants was 43, 17, 15, 5 for CF, BT, FX, APC schemes respectively. Genotyping results were correct in 96%, 98.5%, 100%, and 100% of CF, BT, FX, and APC samples, respectively. Interpretation was correct in 74%, 91%, 88%, and 60% of CF, BT, FX, and APC reports, respectively; however in most of them it was not complete but a referral to genetic counseling was given. Reports were satisfactory in more than 60% of samples in all schemes. This work presents the 2010 results in detail comparing our data with those from other European schemes.